Autism Spectrum Disorder Case File

Autism Spectrum Disorder Case File

Eugene C. Toy, MD, Ericka Simpson, MD, Pedro Mancias, MD, Erin E. Furr-Stimming, MD

CASE 51

A 3-year-old boy is brought to the doctor’s office by his parents because he “isn’t talking like other kids of his same age.” He was the product of an uncomplicated pregnancy and vaginal delivery at term. Although he is not a particularly warm or cuddly child, his parents did not notice anything unusual in the first year of life. At age 2, the child had not yet articulated any words, although he was noted to babble occasionally and showed no affection to his parents or siblings. His parents report that he gets easily upset, particularly by changes from his usual routine, and soothes himself by rocking back and forth or slowly spinning in a circle. Developmental history in the family is normal. The child’s two older siblings are healthy and neurodevelopmentally normal. The child has physically been healthy, has never been hospitalized, and has never had surgery. His immunizations are up to date. On examination, the child has not developed any spoken words, and his temperament remains irritable and isolative. His parents state that he hardly ever makes eye contact, and if forced by others, he becomes upset. He appears to be an active and healthy-appearing toddler who is wandering around the office, ignoring the doctor and his parents, paying attention only to the books, which he rhythmically pulls off the shelf without playfulness. When his mother tries to keep him from the books, he screams, looks up to the ceiling, flaps his arms, and then retreats to the corner and rocks back and forth. He has a normal toddler gait but seems somewhat uncoordinated for his age when reaching for and grasping objects. There are no noted dysmorphic features, and his skin examination is normal.

▶ What is the most likely diagnosis?

▶ What is the next diagnostic step?

▶ What is the next step in therapy?

ANSWERS TO CASE 51:

Autism Spectrum Disorder                                                       

Summary: This physically healthy 3-year-old boy presents with delayed language development, abnormal social interactions, and unusual behaviors. He is physically healthy, and there is nothing of note in his prenatal, medical, surgical, or family histories. His examination is significant only for demonstrating the language deficits and behaviors reported by the parents.

• Most likely diagnosis: Autism spectrum disorder (ASD)
• Next diagnostic step: Audiologic evaluation to ensure that there is no hearing deficit
• Next step in therapy: Educational intervention and behavioral modification, applied behavior analysis (ABA)

ANALYSIS

Objectives

1. Understand the difference between developmental delay and developmental regression.
2. Know the four domains of development and how to assess them clinically.
3. Remember the importance of evaluating hearing in evaluating a language delay.
4. Know the cardinal features of ASD.

CLINICAL CONSIDERATIONS

This 3-year-old boy is brought to the office with concerns about his language development and behavior. Clinically, the most important first step is to carefully distinguish between developmental delay and developmental regression. Delay implies that the child is making progress, although at a rate slower than that considered to be normal. This is generally because of a static process and can lead to an eventual diagnosis of mental retardation. Developmental regression, conversely, implies that the child is now losing previously attained skills and raises the possibility of a progressive neurodegenerative process. Distinguishing between delay and regression can be clinically difficult, at times. For example, a child can inconsistently demonstrate a new developmental skill, leading to the impression that it has been lost. True developmental regression is a red flag, which necessitates an expedited search for a progressive disorder of the nervous system. In this patient, however, there is no hint of developmental regression but instead a picture of developmental delay.

Evaluation of problems with development is facilitated by assessing four distinct developmental aspects: gross motor skills, fine motor skills, personal-social interactions, and language capabilities. An isolated language deficit, for example, can be caused by hearing impairment alone, while global developmental delay (involving all four domains) is more likely to be caused by a significant in utero, perinatal, or genetic disturbance. A delay in gross motor skills arising early on in infancy suggests the diagnosis of cerebral palsy. Assessing which developmental spheres are impacted is facilitated by the use of the Denver Developmental Screening Test (DDST) and confirmed with more sophisticated psychometric measures that are available, either for use in the office or on referral to a pediatric neuropsychologist.

Applying such an approach to this patient reveals that although the child is meeting gross motor milestones appropriately, he is slightly behind in fine motor skills (uncoordinated for his age when reaching for and grasping objects) and disproportionately significantly delayed in the language and personal-social domains (the child has not developed any spoken words, and his temperament remains irritable and isolative). With respect to language, children normally begin babbling by approximately 6 months of age, articulate one word by approximately 1 year, and by 2 years are able to combine two words to form rudimentary sentences, as well as follow simple verbal commands. This patient, at age 3, is therefore significantly delayed, given that he is only able to babble and does not seem to follow commands. Although most newborns are screened for hearing problems in the newborn nursery (using a neurophysiologic test called auditory brainstem-evoked responses), clinicians must be sure that hearing is normal when faced with a language delay. This patient, however, has delays in more than just the language domain. By parental report and based on observations, he also has significant problems with social reciprocity. He is not affectionate toward his parents and siblings and does not maintain eye contact. At times, he seems to treat people in the same detached way that he treats other objects around him. Although solitary play is a normal developmental stage, this child has never progressed to including any type of social play, which is certainly abnormal at his age. Furthermore, he has a variety of odd and idiosyncratic behaviors. For example, he is fascinated with removing books from shelves and does so in a mechanical way rather than a playful one. Also, he uses repetitive behaviors such as rocking, slowly spinning, or rapidly flapping his hands in order to soothe himself when upset rather than seeking comfort from his caretakers. These repetitive stereotyped self-stimulating behaviors are referred to as stereotypies and are commonly seen in children with ASD. Taken together, this child’s clinical condition appears to meet criteria for ASD.

APPROACH TO:

Autism                                                                           

DEFINITIONS

AUTISM SPECTRUM DISORDER (ASM): Diagnostic and Statistical Manual of Mental Disorders, fifth edition, text revision (DSM-V-TR) revised the definition as a single broad category of ASD. ASD in new criteria has two cardinal features: (1) impaired social communication and social interaction and (2) restricted, repetitive behaviors, interests, or activities. In this new criterion, the well-known labels of Asperger syndrome (AS) and pervasive developmental disorders not otherwise specified (PDD-NOS) are no longer present.

DEVELOPMENTAL DELAY: Developmental delay occurs when children have not reached milestones by the expected time period for all five areas of development or just one (cognitive, language and speech, social and emotional, fine motor, and gross motor).

CLINICAL APPROACH

ASD involves deficits in social interactions and behaviors. The diagnosis is made clinically according to the following criteria detailed in DSM-V-TR:

1. With regard to deficits in social communication and social interaction, to qualify for ASD, the patient must have persistent deficits in all three social communication criteria:

A. Lack of social or emotional reciprocity, ranging from, for example abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.

B. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures necessary to regulate social interaction.

C. Deficits in developing, maintaining, and understanding relationships and/or adjusting to social contexts.

2. Restricted, repetitive pattern of behavior, interests, or activities. To qualify for ASD, the patient must meet two out of the four criteria:

A. Stereotyped or repetitive speech, motor movements, use of objects or speech.

B. Excessive adherence to routines or rituals or nonverbal behavior.

C. Highly restricted, fixated interests that are abnormal in intensity or focus.

D. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment.

3. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).

4. Symptoms should limit and impair everyday functioning.

5. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay.

Severity level of ASD is defined based on the level of impairment in social communication and restricted, repetitive patterns of behavior.

ASDs are more common in boys than in girls (4:1) and have an overall prevalence rate of approximately 1 in 68 children in the United States. If findings suggestive of ASD are obtained by history or on a developmental screening examination, then the patient should be referred for more detailed evaluation by a clinician familiar with the formal diagnosis of autism. It is imperative that children are screened for early signs of deficits in social communication and social interaction at their well-child examinations and referred to specialists if any red flags arise. The cause of ASD is unknown, but increasing evidence points to an underlying pathophysiologic process that is ongoing long before the developmental delays become evident and is likely present from birth. Although multiple brain regions are likely to be involved in such a complex disorder, it appears as though the frontal lobe and the amygdala are significantly involved. This makes sense given the frontal lobe’s involvement in regulating emotion and behavior, as well as the role of the amygdala in mediating the response to stress. Recently there has been a flurry of research investigating a possible link between routine childhood vaccinations containing the preservative thimerosal and autism. Although large epidemiologic studies have clearly failed to support this linkage, it remains a significant concern in the minds of many parents and might be an important concern that needs to be addressed directly with them.

MANAGEMENT

Perhaps the most important aspect of management in patients with ASD is a well-designed, appropriately structured educational environment. Given that autism is a developmental disorder, it is vital to begin such interventions early to maximize the development of the child’s potential. Additionally, behavioral interventions can be very helpful both for the patient and the family and caretakers. ABA is a notable treatment approach for people with ASD. It encourages positive behaviors and discourages negative behaviors to improve a variety of skills. Pharmacologic interventions are sometimes employed, although there currently are not many large clinical trials to support their use. Smaller studies have suggested that the use of selective serotonin reuptake inhibitors and atypical antipsychotic medication can have some benefit. It should be noted that no medication currently has an indication from the Food and Drug Administration (FDA) for use in treating the symptoms of autism. It is not surprising, therefore, that many complementary and alternative treatments have been promoted for these patients: mercury chelation therapy, intravenous secretin treatments, and a host of supplements. Parents should be asked about the use of such therapies and counseled about their potential dangers.

PROGNOSIS

The disease usually is nonprogressive, although occasionally, as an affected child grows, additional deficits can be evident. Although less affected individuals can develop improvement in social relationships, the outlook for those children who are significantly affected is poor. The degree of language impairment and intelligence ability usually predicts outcome of eventual function; a child who has not learned to speak by 5 years usually will not gain communicative ability.

COMPREHENSION QUESTIONS

51.1 Of the following patients referred for developmental problems, who would be the most clinically concerning?

A. A 3-year-old child who has never learned to speak

B. A 5-year-old child who has moderate delays in all four developmental domains

C. A 2-year-old child with cerebral palsy and epilepsy

D. A 30-month-old child who was speaking normally as per age but now has no intelligible words

E. A 4-year-old child who has always been clumsy

51.2 The DDST is best described as which of the following?

A. Comprehensive evaluation of all developmental spheres

B. An unnecessary tool with modern neuroimaging techniques such as magnetic resonance imaging (MRI)

C. A quick method for picking up potential developmental problems in an office practice

D. A well-standardized tool for diagnosing autism

E. A test of expressive and receptive language skills

51.3 Which of the following is most important in the diagnosis of autistic disorder?

A. A family history of autism

B. Atrophy of the frontal lobe on MRI

C. Development of symptoms before 5 years of age

D. Normal language function

E. Abnormal social reciprocity

51.4 An 8-year-old boy has recently been diagnosed with autism. Which of the following interventions is most important in the management of this child?

A. Prescribing a moderate dose of an atypical antipsychotic drug such as risperidone

B. Making sure that the child gets no further immunizations

C. Enrolling the child in a highly structured educational program

D. Getting the child involved in highly social activities such as team sports

E. Daily multivitamin therapy

ANSWERS

51.1 D. In each of the children described other than answer D, there is developmental

delay of one type or another. Although developmental delay is concerning, typically, this problem is caused by a “static” insult of some type and not one that is progressing. In these cases the brain is trying to “catch up.” These conditions should not be ignored and must be evaluated. However, the child who spoke normally for age and now is not able to speak intelligently is showing developmental regression, losing ground. This speaks toward a new and ongoing problem, which, if not diagnosed and treated, may lead to progressive permanent issues or even death. Any sign of developmental regression (such as the loss of expressive language skills) is very concerning.

51.2 C. The DDST is useful “quick tool” to pick up potential developmental problems in the office; it assesses four key milestones, including gross motor, language, fine motor, and personal-social. It is not designed as a comprehensive or in-depth assessment device, and some states do not accept it as sufficient for early childhood screening.

51.3 E. Abnormal social reciprocity, along with abnormalities in communication and behavior, is a key feature of ASD. ASD is a clinical diagnosis without useful findings on ancillary tests such as MRI or electroencephalography (EEG). Thus, one of the most important points of evaluation is to have an experienced clinician evaluate any patient with suspected ASD.

51.4 C. Children with autism benefit from a very structured educational environment designed to teach skills in a concrete way. Some of the key behavioral principles include modification of events that precede negative behavior, and positive reinforcement for positive behaviors. Recent research has added a plethora of evidence-based strategies to help these individuals. Although medication can be helpful in some patients, there are no large-scale trials at present to support their usage.

    CLINICAL PEARLS    

▶ Although developmental regression is a red flag, it is not uncommon to see some language regression as autistic symptoms become evident late in the second year of life. ▶ Often children with autism will develop a vocabulary with a few words at an apparently appropriate age and then lose the use of those words by 2 years. This autistic regression is seen in approximately 25% of patients. ▶ More than 25% of children with ASD develop epilepsy, which is a striking increase from the rate of 1% in the general population. Patients with lower IQs are at higher risk of developing epilepsy. ▶ Although language and communication problems do not show up until the second year of life in patients with classic autism, parents often report that these children seem different from early in the first year of life.

REFERENCES

American Psychiatric Association. Neurodevelopmental disorders. Autism spectrum disorder. In: Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Arlington, VA: American Psychiatric Association; 2013. 

Barbaresi W, Katusic S, Voigt R. Autism—a review of the state or the science for pediatric primary health care clinicians. Arch Pediatr Adolesc Med. 2006;160:1167-1175. 

Lobar SL. DSM-V changes for autism spectrum disorder (ASD): implications for diagnosis, management, and care coordination for children with ASDs. J Pediatr Health Care. 2016;30(4):359-365. 

Sugden S, Corbett B. Autism—presentation, diagnosis, and management. Continuum. 2006;12(5): 47-59.

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