Background Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have improvement in dystonia with carbidopa–levodopa, a synthetic form of dopamine typically used in Parkinson’s disease, and are considered to have dopa-responsive THD. THD has been found in 0.5–1 per million persons, although due to overlapping symptoms with other disorders and the need for genetic testing, prevalence is likely underestimated. Existing literature describes some patients with THD having intellectual disability, but comorbid autism spectrum disorder (ASD) has not been reported. Case presentation A nearly 3-year-old boy was referred to pediatric neurology due to hypotonia, delayed motor milestones, and expressive speech delay. Whole exome sequencing confirmed tyrosine hydroxylase deficiency, detecting a novel variant p.S307C first reported here. The child was treated with carbidopa–levodopa with an excellent response, resulting in improved balance, fewer falls, and improved ability to jump, run and climb stairs. He was determined to have dopa-responsive THD. Due to his delays in expressive speech, the boy also had an assessment with a developmental and behavioral pediatrician, who identified a pattern of social pragmatic speech delay, sensory sensitivities, and restricted interests, and determined that he met criteria for a diagnosis of ASD. Conclusions While ASD can stand alone as a clinical diagnosis, it is also a cardinal feature of other genetically-based neurological disorders. To our knowledge, this is the first case that describes a patient with both disorders. Perhaps THD may be among the genetic disorders linked with ASD.
Introduction Sleep is critical to the health and functioning of adolescents, but most teens do not obtain the recommended amount of sleep each night. Some sleep interventions have been efficacious in promoting sleep among adolescents, though others have had a more limited impact. One potential strategy for improving the efficacy of adolescent sleep promotion programs is to optimize the role of parents in supporting their child’s sleep. Recent findings on parental involvement in adolescent sleep suggest that monitoring can improve sleep duration but may be challenged by disagreements about sleep between parents and adolescents. Thus, it is crucial to understand how to involve parents in adolescent sleep promotion while supporting adolescent autonomy. Here, we report qualitative data on strategies for involving parents in adolescent sleep promotion in a way that is acceptable and effective. This data was collected specifically to inform the development of a sleep promotion program for adolescents. Methods We conducted 9 focus groups (3 each for youth, parents of adolescents, and healthcare providers treating adolescents). Transcripts of focus group proceedings were coded and thematically analyzed using inductive and deductive approaches, focusing on parents’ current role in their child’s sleep and the proposed role of parents in an adolescent sleep program. Results Some parents report being involved in their child’s sleep habits by setting bedtimes and supervising a consistent sleep routine. Adolescents prefer parental support that encourages child autonomy for their own sleep routine. To maintain healthy sleep habits, parents report that physicians or other trusted adults may play a key role in facilitating the negotiation of sleep habits that addresses the priorities of both parents and adolescents. Conclusion Our findings support adolescent preference for autonomy in their health behaviors consistent with their developing independence during this development period. Future work should focus on improved understanding of how adolescents and parents can negotiate adolescent autonomy and should examine the efficacy of a sleep promotion program based on varying levels of parental involvement. Support (if any):
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