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1.
BMC Med Genomics ; 16(1): 78, 2023 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-37041529

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtornos do Desenvolvimento da Linguagem , Pré-Escolar , Humanos , Masculino , Carbidopa , Transtornos do Desenvolvimento da Linguagem/tratamento farmacológico , Levodopa/uso terapêutico
2.
Sleep Health ; 7(5): 581-587, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34474988

RESUMO

OBJECTIVE: Few sleep promotion programs for adolescents have involved stakeholders as part of the intervention development, which may contribute to their limited accessibility, scalability, acceptability, and feasibility. Specifically asking stakeholders for their input on how to modify factors impacting sleep is critical, as is identifying strategies for motivating sleep behavior change. We report qualitative feedback from stakeholders interested in improving adolescent sleep, data collected specifically to inform the development of an adolescent sleep promotion program. PARTICIPANTS: We conducted 9 focus groups (3 each for young adults (n = 8, ages 21-25), parents of adolescents (n = 12), and healthcare providers working with adolescents (n = 29) following a semistructured approach. DESIGN: Participants reported on contributors to good and poor sleep; motivators for improving sleep; strategies for promoting and sustaining behavior change; and feasibility of a proposed sleep promotion program. We coded and thematically analyzed focus group transcripts using inductive and deductive approaches. RESULTS: Moderate engagement in activities (eg, a job, sports) was seen as a contributor to good sleep, while having too many or too few activities was thought to contribute to poor sleep. Linking improved sleep with personalized outcomes of interest can enhance motivation for changing sleep. Strategies for behavior change should rely on increasing internal motivation, personalizing intervention content, and having parents model desired behaviors. CONCLUSIONS: Key stakeholders are critical to the development of acceptable interventions that can be implemented effectively in real-world settings. Future work should test whether the identified themes contribute to increased feasibility, scalability, and effectiveness of sleep programs.


Assuntos
Motivação , Pais , Adolescente , Adulto , Grupos Focais , Pessoal de Saúde , Humanos , Sono , Adulto Jovem
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