Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Lucia is a 13-year-old girl with Smith-Magenis syndrome (SMS), including hearing loss, axonal polyneuropathy, and urinary incontinence, followed for management of attention-deficit hyperactivity disorder (ADHD) with combined presentation, in the context of intellectual disability and mood differences. Lucia was diagnosed with SMS at age 6 years and has a history of global developmental delay, bilateral toe walking, bilateral hearing impairment, sleep difficulties, and emotional and behavioral challenges. She received early intervention therapies, attended a preschool program for children with disabilities, and is currently in special education with Speech and Language Therapy and hearing services. In addition, she enjoys attending a mainstream reading class with inclusion support and delights in music and sewing. Socially, she has tended to prefer younger children or adults. Lucia has persistent low frustration tolerance and anxiety, becoming emotionally dysregulated at school and self-injurious at home when she feels she is different from peers or unable to be successful in activities. Her nervousness and agitation has limited her participation in choir and crafts. At home, Lucia becomes fixated on tasks and routines and then is unable to complete activities of daily living promptly and effectively. Lucia was prescribed short-acting methylphenidate for ADHD but had trembling extremities and heard voices when on therapeutic doses. She did better on methylphenidate Osmotic-controlled Release Oral Delivery System (OROS) 18 mg by mouth daily, which her family administered intermittently, as they value using less medication. Guanfacine extended release was trialed, but Lucia experienced worsening anxiety. Lucia and her family have received referrals for mental health counseling in the past, but her parents have not have been able to pursue them because of cost and their busy work schedules. Lucia lives with her mother, originally from South America, who is employed in child care, and father, from the Midwest, employed in a factory. Lucia's mother accompanies her to her appointment and states, "Her hands shake with higher doses of medications, but she is very distractible and spends too long in the bathroom, stuffing toilet paper in her nose. I am not sure what will happen when she grows up. A boy who likes her brings her gifts, and she says she wants to be married and have children someday." Her mother emphasizes that Lucia increasingly demonstrates a desire to be independent and expressed happiness upon reaching menarche, as she seems to understand it as a marker of maturity. On examination, Lucia smiles nervously and bites her nails, yet engages well when discussing books, music, and sewing. She has notable speech articulation differences and is impulsive in her speech and movements. Lucia's mother is interested in gynecological counseling and potentially birth control, given concerns about Lucia's vulnerability. How would you begin to advise Lucia's family about behavioral and medication management?