A term newborn with confirmed Trisomy 21 has a complete blood count drawn on day two of life which reveals leukocytosis (35,000/mm³), 15% circulating blasts, and mild thrombocytopenia. The infant is otherwise vigorous and has no signs of infection. What is the most likely diagnosis for this hematologic picture?
During a diagnostic feedback session, a pediatric resident explains that a 10-year-old has a Specific Learning Disorder. The child’s psychoeducational report highlights major deficits in spelling accuracy and the clarity and organization of his written paragraphs. Which DSM-5 specifier must be included in the diagnosis?
A 4-year-old boy is referred for an evaluation due to delayed speech and challenges interacting with his peers. On evaluation, he shows limited eye contact and does not spontaneously share his enjoyment of toys with his parents. However, his pretend play is varied and appropriate for his language level, and he does not exhibit any repetitive motor mannerisms or insistence on sameness. Which diagnosis best fits this child’s presentation?
A 9-year-old, nonverbal boy with Autism Spectrum Disorder and severe intellectual disability exhibits significant, persistent irritability and aggressive outbursts that have not responded to intensive behavioral interventions. His parents are seeking pharmacologic options. Which medication class has a specific U.S. FDA indication for the treatment of irritability associated with Autism Spectrum Disorder?
A pediatrician is evaluating a 4-year-old boy whose parents are concerned about his development. The pediatrician documents significant delays, defined as greater than 2 standard deviations below the mean, in both expressive language and gross motor function. According to the DSM-5 criteria, which diagnosis is most appropriate for this child at this time?
A 3-year-old girl with a confirmed diagnosis of Down syndrome presents for her annual health supervision visit. Her parents report no concerns; she has had no significant illnesses and is progressing well in her early intervention therapies. In addition to a complete blood count, which of the following screening tests is recommended to be performed annually for this child?
A 3-year-old female presents to a neurodevelopmental clinic with a history of normal initial development followed by a period of developmental regression. Her parents report she has lost previously acquired purposeful hand skills and now has stereotypic hand-wringing movements. On examination, you note the development of acquired microcephaly. According to the provided guidelines, which single-gene test is most specifically indicated for this classic presentation?
A neonatologist is examining a newborn with marked hypotonia, a flattened facial profile, and prominent upslanting palpebral fissures. A single transverse palmar crease is noted on both hands. Which of the following cardiac anomalies is most commonly associated with this infant’s suspected condition?
A 7-year-old child undergoes formal psychological testing and receives a full-scale IQ score of 68. Despite this score, the child’s parents and teachers report that he has excellent practical skills, including independent dressing, feeding, and personal hygiene, and maintains strong, positive social relationships with his peers and family members. Why might this child not receive a diagnosis of Intellectual Disability?
An 11-year-old boy with high-functioning autism spectrum disorder has an intense, all-consuming interest in local bus schedules and has a complex ritual of arranging his shoes by the door that seems to calm him. When asked, he denies that these behaviors are driven by any specific worry or fear. How can these behaviors best be distinguished from the symptoms of classic obsessive-compulsive disorder (OCD)?
