Developmental Disorders Case File

Developmental Disorders Case File

Eugene C. Toy MD, Donald Briscoe, MD, FA  AFP, Bruce Britton, MD, Joel J. Heidelbaugh, MD, FA  AFP, FACG

Case 54

An 18-month-old male child is brought to your office by his mother for a routine well-child examination. This is his first visit to your office, as he has been seen for regular well-child examinations at another clinic since his birth. The child is the product of a spontaneous vaginal delivery at term without complications. His personal and family medical histories are unremarkable and his immunizations are up-to-date. He has one older sister of age 6, who is in the first grade, with normal growth and development. The child lives at home with both biological parents and his sister. There are no pets in the home and no one smokes. Overall, he eats a well-balanced diet, although mom reports he is sometimes a picky eater.

The child's mother notes that she is concerned about his development because he still does not speak single words and only babbles, and her other child was using many words by this age. On further history, you discover that he often disregards the calling of his name, but does startle to loud noises. The child's mother has read about autism on the internet and is concerned that her son may have this diagnosis. She also states that because of her concern, if he needs any immunizations today, she does not want them to be given for fear that this might worsen her son's condition.

On physical examination, the patient is in the 50th percentile for height, and 75th percentile for weight and head circumference. His entire physical examination is unremarkable. On developmental screening, you observe that he walks and runs well, and mom reports that he can walk up steps and kick a ball forward. During the examination, he only babbles and utters no discrete words. When given a toy car, he puts it in his mouth, but never demonstrates rolling the car along the floor. When you call the child's name, tap him on the shoulder, say "Look!" and point to a toy in the corner, you are unable to get his attention.

⯈ By what age should an infant use single words?

⯈ What is your next step in the evaluation of this patient?

⯈ Should immunizations be delayed in this patient?

ANSWER TO CASE 54:

Developmental Disorders

Summary: An 18-month-old child is brought in for a routine well-child examination

and found to have a delay in language and social skill development.

• Age by which a child should use single words: Most children will say "mama/ dada" indiscriminately by 9 months and use two words other than "mama/ dada" by 12 months. No single identifiable words by 16 months are a red flag for the presence of an autism spectrum disorder (ASD).
• Next step in evaluation of this patient: Your screening of this patient notes developmental delays concerning for an ASD. You should complete your screening of this patient with a level 1 standardized autism-specific screening tool, such as the Screening Tool for Autism in Toddlers and Young Children (STAT). Due to the concerns noted on examination, you should refer the patient for a comprehensive ASD evaluation, early intervention/ early childhood education services, and an audiology evaluation.
• Timing of immunizations: Despite current controversy, there is no evidence that immunizations are implicated as a cause of autism, thus the parents should be counseled that the routine immunizations are recommended. Many concerns have been raised that the measles-mumps-rubella (MMR) vaccine may precipitate autism, based on reports of parents who first detected autism in their children following MMR vaccination and a study of 12 autistic patients in which their physicians reported similar suspicions, which has since been retracted for falsification of methods. Subsequent studies have failed to show any evidence of a link between MMR vaccination and the development of autism. To date, there is no evidence to support that the use of thimerosal (a mercury-containing preservative) in vaccines causes autism.

ANALYSIS

Objectives

1. Learn the diagnostic criteria for autism spectrum disorders and the differential diagnosis of pervasive developmental disorder.
2. Know the key clinical signs of ASDs.
3. Be able to formulate a strategy for the assessment and management of ASDs.

Considerations

This 18-month-old child presents with significant language delay and social skills delay. These two findings are highly suspicious for ASD, therefore he should promptly undergo a comprehensive autism assessment. There is no description of stereotyped movement or findings, yet these are not necessary for the diagnosis of ASD. However, this child should also undergo a formalized audiology evaluation.

Since he startles to loud noises, a significant hearing deficit is not likely.

Approach To:

Pervasive Developmental Disorders

DEFINITIONS

JOINT ATTENTION: An infant demonstrates enjoyment in sharing with another individual an object/event by looking back and forth between the individual and the object/ event.

SOCIAL RELATEDNESS: Internal drive to connect with others and share similar feelings.

CLINICAL APPROACH

ASDs include three of the pervasive developmental disorders identified in the DSM-IV and include autistic disorder (AD), Asperger syndrome (AS), and pervasive developmental disorder not otherwise specified (PDD-NOS).

In March 2014, the Centers for Disease Control and Prevention (CDC) released data on the prevalence of ASD in the United States, estimating 1in 68 children-1 in 42 boys and 1 in 189 girls. Family studies also estimate a recurrence risk of as much as 5% to 6% when there is an older sibling with an ASD.

As evidenced by prevalence statistics, most physicians will care for several children with an ASD during the course of their career. Furthermore, as a result of increased media attention intended to raise awareness about these disorders and the early signs, more and more parents will begin to raise concerns to their child's physician. Primary care physicians must be able to recognize the key clinical features of these disorders, to formulate a systematic plan to assess them, and to know how to assist families with the ongoing treatment and care of a child with an ASD.

ASDs are phenotypically heterogenous neurodevelopmental disorders that are the result of a combination of environmental and genetic factors. Evidence supports multiple gene involvement with environmental factors influencing the wide variation in phenotypic expression. Environmental factors implicated include exposures to teratogens in utero and maternal illnesses during pregnancy, but no studies have verified a causal role.

Common features shared by all ASDs include severe deficits in social skills and limited, repetitive, and stereotyped behavior patterns. However, only AS and PDDN OS are characterized by significant language delays.

Although there is no pathognomonic feature, ASDs are universally characterized by deficits in social relatedness, and the early social deficits, such as delayed or absent joint attention appear to be reliable red flag symptoms. However, these characteristics frequently go unnoticed by parents and it is commonly a delay in speech that prompts them to raise a concern with their child's physician.

In order to diagnose ASD, a child must demonstrate abnormal behavior before age 3 and must have delays in the areas of social interaction, language used for social communication, and symbolic or imaginative play. Deficits include the following:

1. Impaired social interaction:

a. Deficient use of nonverbal behaviors such as facial expressions, eye contact, and gestures

b. Lack of peer relationships appropriate to developmental age

c Does not spontaneously seek social relatedness through shared emotions, interests, or achievements with others

2. Impaired communication:

a. Delay in/lack of spoken language development.

b. If the child does have adequate speech, there is an impaired ability to sustain or begin a conversation with others.

c. Repetitious, scripted, or stereotyped use of language.

d. Lack of or severely delayed pretend play skills.

3. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities:

a. Repetitive, nonfunctional, atypical behaviors such as hand flapping, finger movements, rocking, and twirling

b. Restricted patterns of interest that is atypical in either intensity or focus

c. Inflexible adherence to nonfunctional rituals

d. Preoccupations with parts of objects

Children with AS may go unnoticed until they are school age and begin to demonstrate difficulties with peer and teacher interactions. Children with AS have only mild or limited speech delay, but if observed closely their language has often developed atypically. These children show deficits in the use of social language, such as choosing a topic of conversation, tempo, facial expression, or body language. Speech is also often pedantic and limited to only a few topics that hold an all consuming interest to the child.

Neurogenetic comorbid conditions and mental retardation have also been found to be associated with ASDs, although the most recent data indicate the percentages to be much less than previously thought, estimated at 10% and 50%, respectively. Neurogenetic syndromes that may play a causative role in ASDs or otherwise may be associated, as well as other PDDs, must be considered in a clinician's differential diagnosis (Table 54-1).

Management

The key to successful management of ASDs is early diagnosis leading to early intervention. Surveillance for ASDs should occur at every preventive visit throughout

childhood utilizing standard developmental screening tools. The Ages and Stages Questionnaires are common standardized tools that assess developmental milestones from 2 months through 6 years. This includes eliciting a family history of ASDs, parental and other caregiver concerns, developmental history, and making accurate observations of the child. All children should also be screened with the Modified Checklist for Autism in Toddlers (M-CHAT) at the 18- and 24-month visits. If concerns for an ASD are raised during well-child visits, then a screening tool specifically designed for ASDs should be used. Prior to 18 months, screening tools that target social and communication skills may be helpful for detecting early signs of ASDs.

Red flag symptoms indicating the need for immediate evaluation include the following:

• No babbling or pointing by 12 months
• No single words by 16 months
• No two-word phrases by 24 months
• Loss of language or social skills at any age

When a child demonstrates two or more risk factors or a positive screening result occurs, the clinician should take immediate action. The following steps should be accomplished simultaneously:

• Refer the child for a comprehensive ASD evaluation.
• Refer the child to early intervention/early childhood education services.
• Obtain an audiologic evaluation.

Children with ASDs who begin treatment at a younger age have significantly better outcomes, making early identification and intervention critical. The goals of treatment are to improve language and social skills, decrease maladaptive behaviors, support parents and families, and foster independence.

CASE CORRELATION

• See also Case 5 (Well-Child Care).

COMPREHENSION QUESTIONS

54.1 A mother brings her 5-year-old son to your office because his teacher is concerned that he has attention-deficit hyperactivity disorder (ADHD). The teacher has noticed that the child frequently makes long-winded speeches about boats in class and is often rocking back and forth in his seat. On further history taking, the child's mother states that he is very independent with few friends, and has always been interested in boats, preferring them over all other toys. You observe that his speech is monotone and restricted in volume and rate and he never makes eye contact with you or his mother. Which of the following statements is most accurate regarding this child?

A. An Asperger-specific screening tool appropriate for the child's age is the next important step.

B. The most important issue for today's visit is to screen the child for abuse and neglect.

C. This child should be started on oral amphetamine salts, which will lead to improved behavior.

D. This parent should be reassured, as this child's behavior and development is most likely a normal variant.

E. It is probable that one of his vaccinations is responsible for this child's clinical findings.

54.2 Which of the following statements is most accurate?

A. A previously healthy, normally developing 3-year-old child begins to lose bladder control and will no longer speak in sentences, but you should not be too concerned because this began after the birth of her younger sibling and she just wants more attention from her parents.

B. No use of single words by 12 months in a child is reason for immediate referral to speech therapy.

C. Children with ASDs will rarely grow up to be independent adults.

D. You counsel the parents of a 6-year-old boy with autism that their second child is at increased risk for having an ASD.

54.3 Which of the following observations during a clinical examination is concerning for the presence of an ASD?

A. You walk into the examination room and find a 36-month-old child pretending to have tea with her imaginary friend.

B. A 12-month-old child walks over to the sink, and points toward the faucet, but only utters "Uh;' and does not say water.

C. A 2-year-old child is holding tightly to a tattered old blanket, which his mother says he will not leave the house without.

D. You tap an 18-month-old child on the shoulder and say, "Look!" and point to a toy in the corner of the room, but the child ignores you and continues to spin the wheels on his toy car.

ANSWERS

54.1 A. While at first glance the concerns of this child's teacher and mother may sound typical for ADHD, your clinical suspicion should be that the child has Asperger syndrome, based on a history of monotone, restricted speech limited to only one topic of interest, lack of eye contact, lack of peer relationships appropriate to developmental age, and the repetitive, nonfunctional, atypical

behavior of rocking and twirling. Appropriate steps at this time include a complete history and physical examination accompanied by an Aspergerspecific screening tool and immediate referral to a developmental pediatrician for a complete evaluation. You should reassure the child's mother that immunizations are not implicated in the cause of developmental disorders and administer any vaccines needed. You should not delay your diagnostic workup for a developmental disorder for any reason. Although immunizations are important, for this child's situation, evaluation of the developmental problems is of higher priority.

54.2 D. Family studies estimate a recurrence risk of as much as 5% to 6% when there is an older sibling with an ASD. Red flag symptoms indicating the need for an immediate evaluation for an ASD include loss of language or social skills at any age and no use of single words by 16 months. Although most children with an ASD will retain their diagnosis and exhibit residual signs of their disorder into adulthood, children with ASDs who begin treatment at a younger age have significantly better outcomes, and one of the goals of treatment is to foster independence.

54.3 D. The child in answer choice (D) demonstrates a deficit in joint attention, one of the most distinguishing characteristics of very young children with ASDs. It is the lack of pretend play skills, rather than their presence choice (A), that is concerning for an ASD. As demonstrated in answer choice (B) at about 12 to 14 months, a typically developing child will begin to request a desired object that is out of reach by pointing, and, depending on the child's speech skills, may utter simple sounds or actual words. Similar to answer choice (C), most children will form attachments during their early development with a stuffed animal, special pillow, or blanket. However, children with ASDs may prefer hard items such as ballpoint pens, keys, or flashlights.

CLINICAL PEARLS

⯈ Screening tools for autism spectrum disorders, pervasive developmental disorders (NOS), and developmental delay are simple and easy to use in the office setting.

⯈ Common features shared by all the ASDs include severe deficits in social skills and limited, repetitive, and stereotyped behavior patterns. However, only AD and PDD-NOS are characterized by significant language delays.

⯈ Red flag symptoms indicating the need for immediate evaluation for an ASD include no babbling or pointing by 12 months, no single words by 16 months, no two-word phrases by 24 months, and loss of language or social skills at any age .

⯈ When a child demonstrates two or more risk factors or a positive screening result occurs, take immediate action.

REFERENCES

Ages and Stages Questionnaires. Available at: http:/ /www.agesandstages.com. Accessed April 12, 2015. 

Carbone PS, Farley M, Davis T. Primary care for children with autism. Am Fam Physician. 2010;81( 4 ): 453-460. 

Centers for Disease Control and Prevention. Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ. 2014;63(2):1-21. Available at: http://www.cdc.gov.mmwr/pdf/ss/ ss6302.pdf. Accessed April 12, 2015. 

HarringtonJW, Allen K. T he clinician's guide to autism. Pediatr Rev. 2014;35(2):62-78. 

Hurley AM, Tadrous M, Miller ES. T himerosal-containing vaccines and autism: a review of recent epidemiological studies.] Pediatr Pharmacol T her. 2010;15(3):173-181. 

Johnson CP, Myers SM; American Academy of Pediatrics, Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120:1183-1215. Johnson 

CP, Myers SM; American Academy of Pediatrics, Council on Children with Disabilities. Management of children with autism spectrum disorders. Pediatrics. 2007;120:1162-1182. 

Modified Checklist for Autism in Toddlers (M-CHAT). Available at: http://www.m-chat.org/mchat. php. Accessed April 12, 2015. 

Screening Tool for Autism in Toddlers and Young Children (STAT). Available at: http://www.vkc. mc.vanderbilt.edu/vkc/triad/training/stat/. Accessed April 12, 2015. 

Shah PE, Dalton R, Boris NW. Pervasive developmental disorders and childhood psychosis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2007:133-138. 

Smeeth L, Cook C, Fombonne E, et al. MMR vaccination and pervasive developmental disorders: a casecontrol study. Lancet. 2004;364:963-969.

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