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1.
Am J Med Genet C Semin Med Genet ; 193(4): e32073, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37870492

RESUMEN

OBJECTIVE: Children with Down syndrome (DS) may experience changes in sleep architecture (i.e., different sleep stages) that then affect waketime functioning, including learning, mood, and disruptive behavior. For designing and testing interventions, it is important to document any differences in sleep architecture in children with DS with and without co-occurring diagnoses, including neuropsychiatric diagnoses and obstructive sleep apnea (OSA). METHODS: A retrospective cohort study was performed at Massachusetts General Hospital for children and adolescents with DS who underwent polysomnography (PSG) between August 2016 and July 2022. Patient data collected from the electronic medical record included diagnoses, age at PSG, and PSG report. Statistical analysis included unpaired T tests to test hypotheses about differences in sleep architecture within age groups, and differences between children with DS and a co-occurring diagnosis. One way ANOVA was used to determine statistical significance of OSA severity within patients with DS. RESULTS: When compared by age group, those with DS had negative changes in sleep architecture (e.g., less sleep and more wake) when compared to normative data. Within this cohort, having a co-occurring diagnosis of autism resulted in further, negative effects on sleep architecture. 89% of those with DS had diagnosed OSA but only those with severe OSA experienced negative effects on sleep architecture. CONCLUSION: Age is an important covariate when studying the sleep of children with DS and neurotypical children. Studies are needed to test whether minimizing the observed differences in sleep architecture will translate to improved learning, mood, and behavioral outcomes, and how treating OSA affects sleep architecture.


Asunto(s)
Síndrome de Down , Apnea Obstructiva del Sueño , Niño , Humanos , Adolescente , Estudios Retrospectivos , Síndrome de Down/complicaciones , Síndrome de Down/diagnóstico , Apnea Obstructiva del Sueño/etiología , Apnea Obstructiva del Sueño/diagnóstico , Polisomnografía , Sueño
2.
Pediatrics ; 146(2)2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32732263

RESUMEN

With increasing focus in the last decade on post-cardiac arrest care in pediatrics, return of spontaneous circulation, survival rates, and neurologic outcome have improved. As part of this postarrest care, both the American Heart Association and the American Academy of Neurology state it is reasonable to consider targeted temperature management in pediatric comatose patients, although this care is challenging and time sensitive, with many gaps in knowledge remaining. Many pediatric patients will still not survive or will suffer severe neurocognitive impairment despite the therapeutic arsenal provided. Adult guidelines suggest providing postarrest supportive care and limiting prognosis discussions with families until after 72 hours of therapy, but pediatric clinicians are advised to consider a multitude of factors given the lack of data. What, then, should clinicians do if family members of a patient who has been resuscitated request the withdrawal of all life support in the 24 hours immediately postarrest? In this Ethics Rounds, we present such a case and the responses of different clinicians and bioethicists.


Asunto(s)
Eutanasia Pasiva/ética , Paro Cardíaco/terapia , Resucitación , Privación de Tratamiento/ética , Toma de Decisiones Clínicas/ética , Electroencefalografía , Humanos , Hipotermia Inducida , Lactante , Pronóstico
3.
Case Rep Pediatr ; 2020: 1536714, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32685229

RESUMEN

BACKGROUND: Individuals with cystic fibrosis (CF) have persistent lung infections, necessitating the frequent use of antibiotics for pulmonary exacerbations. Some respiratory pathogens have intrinsic resistance to the currently available antibiotics, and any pathogen may acquire resistance over time, posing a challenge to CF care. Gaseous nitric oxide has been shown to have antimicrobial activity against a wide variety of microorganisms, including common CF pathogens, and offers a potential inhaled antimicrobial therapy. Case Presentation. Here, we present the case of a 16-year-old female with CF who experienced a precipitous decline in lung function over the prior year in conjunction with worsening antibiotic resistance of her primary pathogen, Burkholderia multivorans. She received 46 intermittent inhalations of 160 parts-per-million nitric oxide over a 28-day period. The gas was administered via a mechanical ventilator fitted with nitrogen dioxide scavenging chambers. CONCLUSIONS: High-dose inhaled nitric oxide was safe, well tolerated, and showed clinical benefit in an adolescent with cystic fibrosis and pulmonary colonization with Burkholderia multivorans.

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