A 3-year-old girl is brought to the office for a routine well-child appointment. She was delivered preterm at 35 weeks, and her medical history is significant for several ear infections over the last year. Her older brother has been diagnosed with attention-deficit hyperactivity disorder (ADHD), but the rest of her family history is otherwise unremarkable. The patient has become more withdrawn lately and has sometimes been ignoring her parents when asked to perform tasks at home. This seems to have worsened over the last 8 weeks. Otherwise, the patient is energetic and started preschool 3 months ago. Her temperature is 98.6°F (37°C), blood pressure is 98/62 mmHg, pulse is 97/min, and respirations are 26/min. The patient successfully draws a square and can stand on 1 foot. Her language skills are unchanged from her appointment 6 months ago. Her neurological examination is normal, and she is at the 50th percentile for height and weight. She seems distracted during the interview and responds only intermittently to the physician’s directions. Which of the following is the most appropriate next step in management?
Refer to genetic testing
Speech and language assessment
Audiometry testing
Parent and teacher ADHD rating scales
Audiometry testing
This patient who presents with trouble following directions, inconsistent response to the physician's questions, and lack of progression in her language skills may have an acquired hearing impairment. The patient should undergo audiometry testing.

Hearing impairment in children can be genetic or acquired. In a patient with a history of recurrent ear infections, conductive hearing loss is the most common underlying cause of hearing impairment. Hearing impairment can often present similarly to behavioral or persistent developmental disorders. In a child with poor language skills, social skills, and self-isolation, hearing loss should be ruled out first before considering other diagnoses. Undetected hearing loss can progress with poor academic performance, personal-social maladjustment, and emotional difficulties as children progress through critical development stages. The treatment for hearing loss is the restoration of hearing through hearing aids, cochlear implants, and other supportive measures.

Dammeyer et al. studied the impact of childhood hearing loss on family life. They found that children with additional disabilities were more likely to be ignored by parents. They recommend understanding family dynamics in order to better support patients and families.

Incorrect Answers
Answer B: Autism spectrum screening questionnaire is useful in the diagnosis of autism spectrum disorder in children presenting with social isolation and poor communication skills. Autism spectrum disorder often presents with repetitive behaviors and fixed interests, which are absent in this child. Hearing loss should be ruled out first before pursuing this diagnosis. Treatment of autism spectrum disorders is early intervention and counseling.

Answer C: Parent and teacher ADHD rating scales should be obtained to aid in the diagnosis of attention-deficit hyperactivity disorder (ADHD). While children with ADHD often appear inattentive and impulsive in multiple domains, poor language development, and social isolation are not features of ADHD. This patient should first undergo an audiometry test. ADHD can be treated with stimulants such as methylphenidate.

Answer D: Referral for genetic testing is an incorrect first step in the management of this patient. While delayed language can be seen with several genetic conditions, there are usually signs of other global motor, cognitive, and social delays. Additional genetic testing can be pursued if the patient’s audiometry testing results are normal.

Answer E: Referral for speech and language assessment is an incorrect first step. A formal assessment should be obtained in the diagnosis of communication and language disorders. However, this should only be done after ruling out hearing loss. Therefore audiometric testing should be performed first.

Bullet Summary:
Children with a history of recurrent ear infections presenting with signs of social or language development delays should be evaluated for hearing impairment with an audiometry test.