The Complexity of Making a Diagnosis

Abstract

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?

Reliability of parental assessment of auditory skills in young children: a cross-sectional study in Italian language

“… 13 Therefore, one possible conclusion is that children tested with the present questionnaire are too young and that parents were thus not able to correctly assess their auditory behaviour. Another possible conclusion is that while questionnaires of this type may raise awareness of children’s auditory skills and the specific HI suspect elements and can be of assistance in assessing paediatric risk during regular primary care visits, 25 they are not sensitive enough to represent a reliable diagnostic tool for recognising HIs that progress or have later onset.…”

Role of gastrointestinal health in managing children with autism spectrum disorder

“…These behaviors can be categorized into four groups: Sensory-seeking behaviors, repetitive or ritualistic behaviors, communication difficulties, and sensory sensitivities[ 77 ]. Sensory-seeking behaviors involve playing with materials that may resemble the appearance or consistency of diarrhea, such as enjoying squishing or smearing substances like playdough, mud, or other malleable materials, which may appear similar to diarrhea but are not actual fecal matter[ 78 ]. Repetitive behaviors may involve movements or actions around the diaper area that can be mistaken for diarrhea.…”