The Complexity of Making a Diagnosis
Authors: Call Cynthia R. , Williams Marian E. , Lau Deanna , Nyp Sarah S. 
Published: February 2020

CASE:

Carl is a 12-year-old boy midline, with neurologic malformation, ataxia, bilateral strabismus with presumed residual visual impairment after surgical repair, and intellectual disability. He was referred to developmental-behavioral pediatrics for evaluation of possible autism spectrum disorder (ASD).

Carl had a benign prenatal course and was born via spontaneous vaginal delivery at term. Bilateral strabismus was noted at birth. Despite surgery to address strabismus, Carl continues to be unable to raise his eyes above midline, and his visual status, including visual acuity, depth perception, color perception, and visual fields, is unclear. A recent auditory brainstem response evaluation was consistent with normal hearing. Multiple variants of undetermined significance were reported on chromosomal microarray. Magnetic resonance imaging of the brain demonstrated multiple malformations in the brainstem and posterior fossa. Electroencephalogram was without evidence of seizure activity. There is no family history of genetic disorders, brain malformation, or learning/cognitive disability.

Carl was not able to sit independently until 2 years of age and did not walk until 5 years. Now, he can walk short distances by himself but is often unsteady on his feet. He uses a wheelchair but does not propel himself despite a physical therapy assessment indicating that he has adequate strength to do so. Carl spoke his first word at 5 years, and his parents report that he currently uses approximately 50 words spontaneously and appropriately. His speech is difficult to understand because of articulation errors. He can identify colors and numbers but has not mastered concepts of size and comparison. Standard scores for the conceptual, social, and practical domains and the General Adaptive Composite were in the mid-50s on the Adaptive Behavior Assessment System-3, as reported by the parents.

At home, Carl spends much of his time watching videos on his iPad in his bedroom. At school, he tends to separate himself from others on the playground after lunch. Parents believe this to be due to communication difficulties and mobility limitations. Parents report that when he likes another classmate or family member, he will stay in the same room as that individual but will not try to interact. Teachers report that when a well-liked classmate sits near Carl, he will smile and say the classmate's name. He will not attempt to initiate or participate in conversation. A picture exchange communication system was introduced at school because of difficulties understanding his speech. Attempts have also been made to train him to use a keyboard to communicate. Carl has demonstrated limited interest in using either system. He has several repetitive behaviors such as hand flapping, body rocking, and rubbing his nose with a specific spoon. Repetitive, nonpurposeful vocalizations are reported at home and at school. Carl requires assistance with toileting and bathing because of refusal to complete the tasks otherwise. It is common for Carl to cover his ears in response to hearing specific sounds such as fire alarms and emergency sirens.

The Autism Diagnostic Observation Schedule, Second Edition, Module 1 was administered to assess for behaviors consistent with a diagnosis of ASD. Carl scored within the severe range of symptoms and was diagnosed with ASD. Recommendations were made for completion of a functional vision assessment and implementation of home- and school-based applied behavior analysis programs. In addition, further testing with an assessment developed for children with low language abilities was recommended to clarify his nonverbal cognitive abilities. What else would you consider when making recommendations for Carl's care?