Etiological Diagnoses Versus Descriptive Developmental Diagnoses

CASE: Jane is a 7-year-old girl who presented for a developmental-behavioral pediatrics (DBP) evaluation because of parental concern about developmental delays and atypical behavior. Jane is a former term infant who was small for gestational age. She experienced some initial feeding difficulties and was discharged home from the nursery at 5 days of age. As a toddler, Jane was mildly delayed in acquiring gross motor developmental milestones, but she was more significantly delayed in acquiring fine motor and adaptive developmental milestones. She began receiving private occupational therapy (OT) services at 18 months of age. Jane's mother reported persistent current concerns about Jane's fine motor and adaptive development, reporting that she is unable to unbutton, button, or tie her shoes. She reported that at school, Jane has difficulty with handwriting and drawing, and she has had a particular academic difficulty in math. She also reported that despite not exhibiting delays in her acquisition of speech and language developmental milestones, having a large vocabulary, and being able to relate experiences verbally, Jane has trouble with back-and-forth conversation. She reported that Jane frequently makes tangential comments, and she tends to have one-sided conversations, where she will repetitively list facts about her restricted interest in insects, without acknowledging whether others are listening or paying attention to her. She reported that Jane also tends to take things very literally, and she has difficulty recognizing humor and sarcasm. Jane's mother reported that Jane exhibits behavioral rigidity, with a strict need for routine and an overfocus on rules, and she often tattles on other children for breaking the rules. She reported that Jane prefers to play by herself, and she does not have any friends at school or in her neighborhood. She reported that Jane has no difficulties with inattention, impulsivity, or hyperactivity at home or at school. On physical examination, Jane was found to have short stature, webbing of her neck, and a low posterior hairline. During the DBP evaluation, Jane was observed to exhibit poor eye contact, to have difficulty modulating the volume of her voice, and to engage in one-sided conversations. On developmental testing, Jane received a standard score of 72 (age equivalent of 4 years, 6 months) in visual-motor integration on the Beery-Buktenica Developmental Test of Visual Motor Integration. On the Kaufman Brief Intelligence Test-2, she received a verbal standard score of 121 and a nonverbal standard score of 88. On the Wide Range Achievement Test-5, she received a Word Reading standard score of 129, a Spelling standard score of 126, and a Math Computation standard score of 74. Based on the history provided by her mother and direct observations of her behavior during the DBP evaluation, on the Childhood Autism Rating Scale, Second Edition, High Functioning Version, Jane received a score of 34, placing her behavior in the severe symptoms of autism spectrum disorder category. Given her physical examination and the results of her developmental evaluation, genetic testing was pursued, and Jane was found to have Turner syndrome (monosomy X). Based on her diagnosis of Turner syndrome, Jane was determined by her school district to qualify for an Individualized Education Program under the category of “Other Health Impairment,” and she was provided direct OT services and accommodations for math. She was not qualified to receive special education services under either the “Autism” or “Specific Learning Disability” categories, as it was concluded by her special education team that her medical diagnosis of Turner syndrome accounted for all of her special educational needs. What diagnoses need to be included in the DBP report, and what education does the medical team need to provide the special education team regarding the relationship between etiological and developmental diagnoses for children with developmental disabilities?