Disruptive Behavior, Global Developmental Delay, and Obesity in a 5-Year-Old Boy with a Chromosome Microduplication.

CASE: Ryan is a 5-year-old boy who was seen in a Developmental Behavioral Pediatrics clinic for disruptive behavior and developmental delay. His medical history was notable for a tethered spinal cord repaired at age 4 months, alternating exotropia with multiple surgeries, and obesity (body mass index at 99%). Ryan's development was globally delayed. He sat at age 10 months and walked at 24 months. An Autism Diagnostic Observation Schedule-Toddler module (ADOS-T) was completed at age 19 months and demonstrated little-to-no concern for autism spectrum disorder.Ryan's parents described behavioral challenges including hyperactivity, impulsivity, aggression toward him self and others, severe tantrums, a short attention span, and difficulty sleeping. They also endorsed repetitive behaviors including head rocking, walking in circles, and perseverative speech. Expressive language was significantly limited. There was no family history of autism or intellectual disability.Ryan's physical examination was notable for alternating exotropia, hypertelorism, upslanting palpebral fissures, and obesity. His speech was limited to 1-word utterances. Neurological and general examinations were normal.He was referred for repeat psychological testing at age 5 years. The ADOS-2 (Module 2) was consistent with a classification of autism with a high level of autism-related symptoms. A fragile X test was negative, and microarray demonstrated a microduplication in the region of 2p25.3 including the myelin transcription factor 1-like gene.

An Ethical Conflict Between Parents and Clinician in a Child with a Language Delay.

CASE: A developmental-behavioral pediatrician evaluated a 2-year-old child for developmental delays. He determined that the child had mild expressive language delays; the child had an intelligible vocabulary of 20 words and at least 20 other words that he said unclearly. He said a few contracted 2-word phrases, such as "gimme" and "its ok." He was shy and generally clung to his parents who spoke softly and very little. His development in all other domains was normal. Hearing evaluation and the neurological examination were normal.The pediatrician provided suggestions to the parents in order to stimulate language and scheduled a follow-up appointment in 3 months. The parents asked him to refer the child for early intervention and write a letter to the US Immigration and Naturalization Service. They asked that the letter state that the child had a disabling condition and returning the child and his family to their country of origin would cause permanent harm to the child. The parents then gave the pediatrician a draft of a letter that had been prepared by an immigration lawyer.The physician explained to the parents that the child had a mild expressive language delay and that he would like to see the child again in 3 months before deciding on early intervention. He advised them to obtain a copy of his medical note from the medical records department. The parents insisted that he write the letter and got upset and called him "heartless" when the physician refused to write the letter.

An ethical conflict between parents and clinician in a child with a language delay.

CASE: A developmental-behavioral pediatrician evaluated a 2-year-old child for developmental delays. He determined that the child had mild expressive language delays; the child had an intelligible vocabulary of 20 words and at least 20 other words that he said unclearly. He said a few contracted 2-word phrases, such as "gimme" and "its ok." He was shy and generally clung to his parents who spoke softly and very little. His development in all other domains was normal. Hearing evaluation and the neurological examination were normal. The pediatrician provided suggestions to the parents in order to stimulate language and scheduled a follow-up appointment in 3 months. The parents asked him to refer the child for early intervention and write a letter to the US Immigration and Naturalization Service. They asked that the letter state that the child had a disabling condition and returning the child and his family to their country of origin would cause permanent harm to the child. The parents then gave the pediatrician a draft of a letter that had been prepared by an immigration lawyer.The physician explained to the parents that the child had a mild expressive language delay and that he would like to see the child again in 3 months before deciding on early intervention. He advised them to obtain a copy of his medical note from the medical records department. The parents insisted that he write the letter and got upset and called him "heartless" when the physician refused to write the letter.

Neurofibromatosis type 1 in a 9-year-old boy with learning problems, emotional outbursts, and facial disfigurement.

CASE: : John is a 9-year-old boy with a history of neurofibromatosis type 1 presenting to his general pediatrician with difficulty focusing, angry outbursts, and poor performance in school. John was diagnosed with neurofibromatosis type 1 at 1 year of age. Since then, he has undergone 7 surgeries for a right orbital plexiform neurofibroma. His mother reports that he has had trouble with limit setting and tantrums since he was 1.5 years old, "has no capacity to sit still," and is performing below grade level in all academic areas. His tantrums, which can last up to an hour, are usually triggered by limit setting and may involve yelling, foul language, crying, throwing objects, and banging on doors. The tantrums occur only at home.John is currently in third grade and has had an individualized education plan since kindergarten. He has particular trouble remembering new subject material; despite frequent repetition, he seems to "forget it all by the next day." He is performing below grade level in reading, math, and written language, despite additional academic support.John is taking amlodipine and hydrochlorothiazide for hypertension due to renal artery stenosis. His physical examination reveals a large area of hyperpigmentation and swelling around his right eye at the site of a plexiform neurofibroma; he also has axillary freckling and more than 6 café au lait macules, >5 mm in diameter, throughout his chest and back. His speech is 100% intelligible with appropriate tone and quality. The remainder of his physical examination is normal. Screening for educational achievement in clinic shows performance at or below first-grade level for reading, writing, and spelling. Performance in math is below grade level but better than language-based performance.