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1.
Am J Med Genet A ; 185(3): 966-977, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33381915

RESUMO

Children with trisomy 13 and 18 (previously deemed "incompatible with life") are living longer, warranting a comprehensive overview of their unique comorbidities and complex care needs. This Review Article provides a summation of the recent literature, informed by the study team's Interdisciplinary Trisomy Translational Program consisting of representatives from: cardiology, cardiothoracic surgery, neonatology, otolaryngology, intensive care, neurology, social work, chaplaincy, nursing, and palliative care. Medical interventions are discussed in the context of decisional-paradigms and whole-family considerations. The communication format, educational endeavors, and lessons learned from the study team's interdisciplinary care processes are shared with recognition of the potential for replication and implementation in other care settings.


Assuntos
Cromossomos Humanos Par 18 , Cuidados Paliativos/organização & administração , Equipe de Assistência ao Paciente , Síndrome da Trissomia do Cromossomo 13 , Trissomia , Defesa da Criança e do Adolescente , Tomada de Decisão Clínica , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/terapia , Nutrição Enteral , Feminino , Monitorização Fetal , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/terapia , Humanos , Alimentos Infantis , Transtornos da Nutrição do Lactente/prevenção & controle , Recém-Nascido , Terapia Intensiva Neonatal/métodos , Comunicação Interdisciplinar , Expectativa de Vida , Masculino , Hipotonia Muscular/genética , Hipotonia Muscular/terapia , Neoplasias/complicações , Diagnóstico Pré-Natal , Relações Profissional-Família , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/embriologia , Síndrome da Trissomia do Cromossomo 13/terapia
2.
J Am Geriatr Soc ; 57(1): 76-81, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19054182

RESUMO

OBJECTIVES: To compare osteoporosis risk in residents of assisted living (AL) with that of age- and sex-matched community-dwelling adults. DESIGN: Cross-sectional. SETTING: Community and AL facilities in Connecticut. PARTICIPANTS: One hundred seven individuals (77 control, 37 AL). ASSESSMENTS: Fracture and osteoporosis evaluation history, qualitative heel ultrasound (QUS), 25-hydroxyvitamin D (25OHD), parathyroid hormone (PTH), and physical function measures, including walking speed, chair rise time, 6-minute walk, Berg Balance Scale, Get Up and Go, and handgrip strength. RESULTS: Participants' mean age was 82.7+/-5.7. There were no group differences in reported fracture, diagnosis of osteoporosis, or previous bone mineral density (BMD) assessment. QUS T-scores were -1.0+/-1.5 for community living and -1.9+/-1.3 for AL (P=.002), 25OHD levels were 113.0+/-40.1 nnmol/L for community living and 81.8+/-36.9 for AL (P<.001), and PTH levels were 50.8+/-29.8 pg/mL for community living and 58.8+/-32.8 pg/mL for AL (P=.22). Physical performance was more impaired in AL (P<.05), except for single leg stance (P=.16). In linear regression analysis, age, sex, and site of residence were significant predictors of heel T-score, explaining 53.7% of the variance. CONCLUSION: Residents of AL did not report less fracture or osteoporosis than those from the community, but risk factors measured directly were significantly different, including lower BMD and 25OHD and more impairment in measures of physical function. These data suggest that residents of AL are at greater risk for osteoporotic fracture and that measures to diminish risk (optimizing vitamin D status, implementing fall prevention strategies, incorporating exercise to improve physical performance) should be considered and studied for benefit.


Assuntos
Moradias Assistidas/estatística & dados numéricos , Idoso Fragilizado , Osteoporose/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Densidade Óssea , Estudos Transversais , Feminino , Humanos , Masculino , Características de Residência , Fatores de Risco
3.
J Dev Behav Pediatr ; 27(2): 127-8, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16682876
4.
Clin Pediatr (Phila) ; 45(3): 229-38, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16708135

RESUMO

The prescription rates of clonidine have risen dramatically and the extent to which these increases can be attributed to treatment of sleep disturbance is unknown. Surveys were mailed to 800 pediatricians across four geographically diverse states to assess prescribing practices specific to sleep disturbance. Ninety-six percent of the respondents treated sleep disturbance. More than one third of the sample reported using clonidine specifically for sleep disturbance including sleep onset, sleep schedule, nighttime awakening, and early morning awakening problems and parasomnias. Clonidine ranked second only to antihistamines as the most commonly used medication for treating sleep disturbance.


Assuntos
Agonistas alfa-Adrenérgicos/uso terapêutico , Clonidina/uso terapêutico , Pediatria , Padrões de Prática Médica/estatística & dados numéricos , Transtornos do Sono-Vigília/tratamento farmacológico , Adolescente , Adulto , Terapia Comportamental , Criança , Pré-Escolar , Estudos Transversais , Feminino , Antagonistas dos Receptores Histamínicos H1/uso terapêutico , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Transtornos do Sono-Vigília/terapia , Inquéritos e Questionários , Estados Unidos
5.
Res Dev Disabil ; 26(1): 33-40, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15590235

RESUMO

We indirectly determined how children with mental retardation analyze facial identity and facial expression, and if these analyses of identity and expression were controlled by independent cognitive processes. In a reaction time study, 20 children with mild mental retardation were required to determine if simultaneously presented photographs of pairs of faces were pictures of the same person or of different people (identity matching), or to determine if the pairs of faces showed the same expressions or different expressions (expression matching). Faces of familiar and unfamiliar people were used as stimuli. For identity matching, reaction times were faster for familiar faces than for unfamiliar faces. For expression matching, there was no difference between familiar and unfamiliar faces. These results are consistent with neuropsychological findings from the general population indicating that analyses of facial expressions proceed independently from processes involved in establishing a person's identity. Our results suggest that the basic neuropsychological mechanisms that underlie cognitive processing of facial identity and facial expressions in children with mental retardation may be similar to those of people in the general population.


Assuntos
Expressão Facial , Deficiência Intelectual/psicologia , Reconhecimento Psicológico , Criança , Cognição , Feminino , Humanos , Masculino , Psicologia do Self , Índice de Gravidade de Doença
6.
J Consult Clin Psychol ; 67(5): 786-789, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10535245

RESUMO

Consecutive admissions to an outpatient child psychiatry clinic diagnosed with oppositional defiant disorder (ODD), attention deficit-hyperactivity disorder (ADHD), or adjustment disorder were assessed for trauma exposure by a structured clinical interview and parent report. Controlling for age, gender, severity of internalizing behavior problems, social competence, family psychopathology, and parent-child relationship quality (assessed by parent report), an ODD diagnosis, with or without comorbid ADHD, was associated with increased likelihood of prior victimization (but not nonvictimization) trauma. ADHD alone was not associated with an increased likelihood of a history of trauma exposure. Traumatic victimization contributed uniquely to the prediction of ODD but not ADHD diagnoses. Children in psychiatric treatment who are diagnosed with ODD, but not those diagnosed solely with ADHD, may particularly require evaluation and care for posttraumatic sequelae.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo/etiologia , Maus-Tratos Infantis/psicologia , Acontecimentos que Mudam a Vida , Estresse Psicológico/complicações , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Estatística como Assunto
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