Pediatric Primary Care Case Studies (10 page)

Armed with these data, what additional areas of development should be explored?

Although clinical observations support age-appropriate fine motor skills, there are concerns with James’s social development (i.e., how he relates to others). Other developmental skills, such as adaptive and gross motor parameters, should be documented as well. Interest in and perseveration with spinning objects such as pinwheels are behaviors commonly associated with autistic children.

You ask Ms. Jones about James’s sociability. Does he like to cuddle? Will he blow kisses? Is he averse to being held? Is there any interactive play with his brother?

Ms. Jones reports that James has never been a cuddler. Even as an infant, when he would cry for hours, he refused to be consoled. “We thought he had the colic,” she says. “I was always so thankful when he would finally fall asleep. I know they’re twins, but James was always so different from his brother.” Ms. Jones also reports that James prefers playing with common objects by himself. “It’s almost as if he were in his own little world most of the time,” she comments.

Ms. Jones states that both boys began to walk independently by 15 months of age. They are very active physically and now climb the stairs at home. Mealtimes have become a chore, because both boys refuse to allow their mother to feed them. They insist on feeding themselves, although they are quite messy. They can hold a spoon and drink from a cup, but Ms. Jones states that they still need a bedtime bottle for comfort.

What additional information do you need to gather to continue your assessment of James?

You continue to search for relevant data by developing the family, social, and environmental history.

Ms. Jones is 36 years of age and has no medical problems. She left her secretarial position one month before the twins were born to devote herself to rearing them. She has been married for 5 years and describes her husband as a supportive spouse and involved father. He looks forward to interacting with the children when he returns home from work. They reside in a relatively new single family home. No other blood relatives in the extended family have been diagnosed with epilepsy, mental retardation, or genetic syndromes.

Physical Examination

It is now time to proceed with the physical examination. Examining a toddler is often a challenging task for the healthcare provider. Many children will actively struggle during the examination at this age. Peter and James are no exceptions.

During your approach to the children, you notice that James seems to be particularly averse to touch. He recoils at the slightest attempt to soothe him through subdued interaction. At one point, James seems to be more interested in your stethoscope than in any personal interaction. He screams when held for the otoscopic exam. You note that both ear canals are patent with mobile glistening grey tympanic membranes. His palate is intact. There are no hypopigmented lesions on the skin. Neurologically, he exhibits symmetrical muscle tone and strength. You note no dysmorphic features. On the contrary, James appears to be a beautiful little boy.

At this point, you are considering possible diagnoses for the abnormal development you are identifying in this little boy.

Making the Diagnosis

What specific differential diagnoses should be considered at this juncture, given this constellation of symptoms?

•   Primary language delay, with associated behavioral issues.

•   Additional developmental delays in the personal-social and adaptive categories may indicate mental retardation.

•   Emerging autistic spectrum disorder: pervasive developmental disorder, NOS.

What other diagnoses would be considered but are of less likelihood in this case?

The clinician may consider other diagnoses delineated in
Box 3-1
. Given the clinical presentation at hand, these are much less likely.

At this point James exhibits several “red flags” on the list of concerns indicating the possibility of autistic spectrum disorder:

•   No babbling by 12 months of age

•   No pointing or gesturing to indicate wants by 12 months of age

•   No single words documented by 16 months of age

•   No spontaneous two-word combinations (usually seen by 24 months of age)

•   Loss of language or social skills at any age

Box 3–1   Differential diagnosis for autism.

•   Neuro-psychological disorders

•
   Elective mutism

•
   Obsessive-compulsive disorder

•
   Schizophrenia of childhood

•
   Conduct disorder

•
   Mental retardation

•   Neurological disorders

•
   Absence seizures

•
   Tourette syndrome

•    Hearing impairment

•   Lead poisoning

•   Fetal alcohol syndrome

•   Genetic conditions

•
   Tuberous sclerosis (3–4% of autism cases) (Barbaresi et al., 2006).

•
   Fragile X (7% of autism cases) (Barbaresi et al., 2006).

•
   Rett syndrome

•
   Cornelia de Lange syndrome

•
   Down syndrome

•
   Angelman syndrome

•
   Smith-Magenis syndrome

•   Inborn errors of metabolism (5% of autism cases) (Barbaresi et al., 2006).

•
   Phenylketonuria

James also exhibits several early warning signs of autistic spectrum disorder:

•   Extremes of temperament and behavior (marked irritability to alarming passivity)

•   Lack of meaningful social eye contact

•   Inconsistent orienting to his name

•   Lack of joint attention

•   Lack of motor and expressive reciprocation

•   Lack of reciprocation to sounds

•   Lack of interactive play

Joint attention, a normal behavior that occurs spontaneously in young children, is manifested as apparent enjoyment in sharing an experience with another person. A deficit in joint attention skills is an important diagnostic clue for ASD in the very young child.

What diagnoses were ruled out through your physical examination?

Normal-appearing tympanic membranes suggest the absence of conductive hearing loss, although this finding does not rule out sensorineural loss. The absence of ash leaf spots or café au lait macules make neurocutaneous disorders less likely. A normal neurological examination and absence of dysmorphic features point away from fetal alcohol syndrome or a genetic aberration, such as Down syndrome.

Other Tests for the Diagnosis

At this point, what additional testing is indicated to arrive at a diagnosis?