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1.
Eur Eat Disord Rev ; 31(1): 87-97, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35751865

RESUMO

OBJECTIVE: This study investigated treatment-engagement fears, self-efficacy, and accommodating and enabling in mothers and fathers of adolescent and adult children with eating disorders. METHODS: This study involved a secondary analysis of pre-treatment data from a subsample of 143 parents (95 mothers; 48 fathers) from a Canada-wide multi-site study. Parents completed the Caregiver Traps Scale, Parents Versus Anorexia Scale, and the Accommodation and Enabling Scale for Eating Disorders. Data were analysed using factorial Multivariate Analysis of Variance and mediation via multiple regression. RESULTS: Mothers reported higher levels of treatment-engagement fears than fathers. Among mothers, higher fear predicted lower self-efficacy and more accommodating and enabling behaviours. Among fathers, neither fear nor self-efficacy predicted accommodating and enabling. No differences in treatment-engagement fear or self-efficacy between parents of adolescent child and adult children were found at pre-treatment. CONCLUSIONS: Mothers' and fathers' experience different levels of fear related to their involvement in their ill-child's treatment at pre-treatment, and that fear is uniquely related to variables that impact treatment outcomes. There is a need to support parents even when their child is an adult. This study can inform family-based treatments vis-a-vis tailoring interventions for mothers and fathers and providing support to parents of children with eating disorders across the lifespan.


Assuntos
Filhos Adultos , Transtornos da Alimentação e da Ingestão de Alimentos , Adolescente , Humanos , Feminino , Mães , Pais , Transtornos da Alimentação e da Ingestão de Alimentos/terapia
2.
Genet Med ; 22(4): 767-776, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31767984

RESUMO

PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls. RESULTS: We identified 35 patients with DS and unexplained regression, with a mean age at regression of 17.5 years. Diagnostic features differed substantially between regression cases and matched controls (p < 0.001 for all but externalizing behaviors). Patients with regression had four times as many mental health concerns (p < 0.001), six times as many stressors (p < 0.001), and seven times as many depressive symptoms (p < 0.001). Tiered medical evaluation most often identified abnormalities in vitamin D 25-OH levels, polysomnograms, thyroid peroxidase antibodies, and celiac screens. Analysis of the subset of patients with nondiagnostic medical evaluations reinforced the proposed definition. CONCLUSIONS: Our case-control evidence supports a proposed definition of unexplained regression in Down syndrome. Establishing this clinical definition supports future research and investigation of an underlying mechanism.


Assuntos
Transtorno do Espectro Autista , Síndrome de Down , Adolescente , Estudos de Casos e Controles , Bases de Dados Factuais , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiologia , Humanos , Adulto Jovem
3.
Am J Hum Genet ; 92(2): 210-20, 2013 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-23332918

RESUMO

Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited. By combining the results of diagnostic testing of 49,684 individuals, we identified 24 microdeletions that affect at least one exon of AUTS2, as well as one translocation and one inversion each with a breakpoint within the AUTS2 locus. Comparison of 17 well-characterized individuals enabled identification of a variable syndromic phenotype including ID, autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. The dysmorphic features were more pronounced in persons with 3'AUTS2 deletions. This part of the gene is shown to encode a C-terminal isoform (with an alternative transcription start site) expressed in the human brain. Consistent with our genetic data, suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2. Our observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology. The zebrafish model provides a valuable tool for investigating the etiology of AUTS2 syndrome and facilitating gene-function analysis in the future.


Assuntos
Éxons/genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Proteínas/química , Proteínas/genética , Deleção de Sequência/genética , Adolescente , Adulto , Sequência de Aminoácidos , Animais , Sequência de Bases , Criança , Pré-Escolar , Proteínas do Citoesqueleto , Fácies , Feminino , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Fenótipo , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , Supressão Genética , Síndrome , Fatores de Transcrição , Adulto Jovem , Peixe-Zebra/embriologia , Peixe-Zebra/genética , Proteínas de Peixe-Zebra/química , Proteínas de Peixe-Zebra/genética
4.
Eat Disord ; 24(2): 173-85, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26766773

RESUMO

Carers often feel disempowered and engage in behaviours that inadvertently enable their loved one's ED symptoms and yet little is known regarding these processes. This study examined the relationships among fear, self-blame, self-efficacy, and accommodating and enabling behaviours in 137 carers of adolescents and adults with ED. The results revealed that fear and self-blame predicted low carer self-efficacy in supporting their loved one's recovery as well as the extent to which carers reported engaging in recovery-interfering behaviours. The relevance of these findings are discussed in the context of family-oriented ED therapies and highlight the importance for clinicians to attend to and help to process strong emotions in carers, in order to improve their supportive efforts and, ultimately, ED outcomes.


Assuntos
Cuidadores/psicologia , Medo , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Autoimagem , Apoio Social , Adolescente , Adulto , Criança , Humanos , Autoeficácia , Resultado do Tratamento , Adulto Jovem
5.
Expert Rev Neurother ; 24(4): 421-432, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38391788

RESUMO

INTRODUCTION: Amphetamine preparations are one of the two categories of stimulant medications approved for the treatment of attention deficit hyperactivity disorder (ADHD). Optimal treatment of ADHD aims to reduce core symptoms for as much of the waking hours as possible, leading to longer-acting delivery formats. In addition, the pediatric population commonly has difficulty swallowing pills and manufacturers have developed a variety of options to facilitate this concern. These include chewable tablets, capsules that may be sprinkled on soft food, liquids and transdermal patches. AREAS COVERED: This article reviews the once-daily extended-release preparations currently available for amphetamine compounds, their pharmacodynamics, and common adverse effects. EXPERT OPINION: There is an extensive evidence base supporting use of amphetamine preparations in the treatment of ADHD. Rapid onset of action and a favorable side effect profile make these widely used. The availability of once-daily extended-release chewable tablets, capsules that can be opened and sprinkled, and liquid formulations provides clinicians with multiple options to meet the specific needs of patients with difficulty swallowing whole pills.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Estimulantes do Sistema Nervoso Central , Metilfenidato , Humanos , Criança , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Anfetamina/uso terapêutico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Metilfenidato/uso terapêutico , Preparações de Ação Retardada/uso terapêutico , Comprimidos/uso terapêutico
6.
Neonatal Netw ; 32(5): 365-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23985475

RESUMO

Troponin T and I can be found within the myocardial filaments. Measuring these cardiac troponin levels in full-term newborns and premature infants has not become a common practice in the neonatal intensive care unit and newborn nurseries. Research studies are discovering that an elevation in troponin T and I levels can be directly correlated with the severity of the infant's illness, and it can be potentially prognostic of morbidity. This literature analysis discusses what can be considered normal cardiac troponin levels along with what elevated levels are and possible conditions associated with those elevations.


Assuntos
Educação Continuada em Enfermagem , Enfermagem Neonatal/educação , Troponina/sangue , Adulto , Biomarcadores/sangue , Cálcio/metabolismo , Diagnóstico Diferencial , Cardiopatias Congênitas/sangue , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/enfermagem , Humanos , Recém-Nascido , Doenças do Prematuro/sangue , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/enfermagem , Contração Miocárdica/fisiologia , Infarto do Miocárdio/sangue , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/enfermagem , Isquemia Miocárdica/sangue , Isquemia Miocárdica/diagnóstico , Isquemia Miocárdica/enfermagem , Valor Preditivo dos Testes , Prognóstico , Valores de Referência , Troponina C/sangue , Troponina I/sangue , Troponina T/sangue
7.
J Dev Behav Pediatr ; 44(5): e365-e369, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37099647

RESUMO

OBJECTIVE: The national developmental-behavioral pediatric (DBP) workforce struggles to meet current service demands because of several factors. Lengthy and inefficient documentation processes are likely to contribute to service demand challenges, but DBP documentation patterns have not been sufficiently studied. Identifying clinical practice patterns may inform strategies to address documentation burden in DBP practice. METHODS: Nearly 500 DBP physicians in the United States use a single commercial electronic health record (EHR) system (EpicCare Ambulatory, Epic Systems Corporation, Verona WI). We evaluated descriptive statistics using the US Epic DBP provider data set. We then compared DBP documentation metrics against those of pediatric primary care and selected pediatric subspecialty providers who provide similar types of care. One-way analyses of variance (ANOVAs) were conducted to determine whether outcomes differed among provider specialties. RESULTS: We identified 4 groups for analysis from November 2019 through February 2020: DBP (n = 483), primary care (n = 76,423), pediatric psychiatry (n = 783), and child neurology (n = 8589). Post hoc pairwise comparisons revealed statistically significant differences between multiple outcome-specialty combinations. Time in notes per appointment and progress note length demonstrated the strongest evidence of an increased burden on DBP providers compared with other similar provider groups. CONCLUSION: DBP providers spend a significant amount of time documenting progress notes both during and outside of normal clinic hours. This preliminary analysis highlights the utility of using EHR user activity data to quantitatively measure documentation burden.


Assuntos
Registros Eletrônicos de Saúde , Médicos , Humanos , Estados Unidos , Criança , Instituições de Assistência Ambulatorial , Recursos Humanos , Documentação
8.
Eur J Pediatr ; 170(7): 859-63, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21120524

RESUMO

Down syndrome (DS) patients have an increased risk of developing pulmonary hypertension (PH). Increased plasma levels of asymmetric dimethylarginine (ADMA) may contribute to vascular dysfunction in adults with idiopathic pulmonary hypertension. Our goal was to test the hypothesis that DS patients with PH have higher plasma levels of ADMA than DS patients without PH. DS patients with definitive PH (n = 6) and DS patients with no evidence of PH (n = 12) were studied. Plasma levels of arginine, ADMA, and nitrite/nitrate (NOx; stable metabolites of nitric oxide (NO)) were measured. Plasma arginine concentration was lower (p < 0.05) in PH patients (23 ± 11 µM) versus non-PH patients (46 ± 24 µM). Plasma ADMA concentration was higher (p < 0.005) in PH patients (18.0 ± 4.2 µM) versus non-PH patients (8.6 ± 5.9 µM). Plasma NOx was lower (p < 0.05) in PH patients (4.5 ± 1.7 µM) versus non-PH patients (8.5 ± 7.3 µM). These results are consistent with ADMA contributing to lower NO production in DS patients with PH and suggest that ADMA levels may be a potential biomarker for PH in DS patients.


Assuntos
Arginina/análogos & derivados , Síndrome de Down/sangue , Hipertensão Pulmonar/sangue , Arginina/sangue , Biomarcadores/sangue , Síndrome de Down/complicações , Feminino , Humanos , Hipertensão Pulmonar/complicações , Lactente , Masculino , Nitratos/sangue , Nitritos/sangue
10.
N Engl J Med ; 347(5): 314-21, 2002 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-12151468

RESUMO

BACKGROUND: Atypical antipsychotic agents, which block postsynaptic dopamine and serotonin receptors, have advantages over traditional antipsychotic medications in the treatment of adults with schizophrenia and may be beneficial in children with autistic disorder who have serious behavioral disturbances. However, data on the safety and efficacy of atypical antipsychotic agents in children are limited. METHODS: We conducted a multisite, randomized, double-blind trial of risperidone as compared with placebo for the treatment of autistic disorder accompanied by severe tantrums, aggression, or self-injurious behavior in children 5 to 17 years old. The primary outcome measures were the score on the Irritability subscale of the Aberrant Behavior Checklist and the rating on the Clinical Global Impressions - Improvement (CGI-I) scale at eight weeks. RESULTS: A total of 101 children (82 boys and 19 girls; mean [+/-SD] age, 8.8+/-2.7 years) were randomly assigned to receive risperidone (49 children) or placebo (52). Treatment with risperidone for eight weeks (dose range, 0.5 to 3.5 mg per day) resulted in a 56.9 percent reduction in the Irritability score, as compared with a 14.1 percent decrease in the placebo group (P<0.001). The rate of a positive response, defined as at least a 25 percent decrease in the Irritability score and a rating of much improved or very much improved on the CGI-I scale, was 69 percent in the risperidone group (34 of 49 children had a positive response) and 12 percent in the placebo group (6 of 52, P<0.001). Risperidone therapy was associated with an average weight gain of 2.7+/-2.9 kg, as compared with 0.8+/-2.2 kg with placebo (P<0.001). Increased appetite, fatigue, drowsiness, dizziness, and drooling were more common in the risperidone group than in the placebo group (P<0.05 for each comparison). In two thirds of the children with a positive response to risperidone at eight weeks (23 of 34), the benefit was maintained at six months. CONCLUSIONS: Risperidone was effective and well tolerated for the treatment of tantrums, aggression, or self-injurious behavior in children with autistic disorder. The short period of this trial limits inferences about adverse effects such as tardive dyskinesia.


Assuntos
Antipsicóticos/uso terapêutico , Transtorno Autístico/tratamento farmacológico , Risperidona/uso terapêutico , Adolescente , Antipsicóticos/administração & dosagem , Antipsicóticos/efeitos adversos , Transtorno Autístico/psicologia , Criança , Comportamento Infantil/efeitos dos fármacos , Pré-Escolar , Método Duplo-Cego , Feminino , Humanos , Masculino , Risperidona/administração & dosagem , Risperidona/efeitos adversos , Resultado do Tratamento
11.
J Infus Nurs ; 29(6): 346-52, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17122690

RESUMO

Umbilical arterial and venous catheter placement have become the standard of care in the neonatal intensive care unit. These catheters allow for rapid and reliable vascular access for the administration of fluids and medications, as well as a means for accurate laboratory determinations and invasive monitoring. Catheter placement and maintenance require training and education of all healthcare workers to prevent or minimize the associated risks.


Assuntos
Cateteres de Demora , Umbigo , Cateteres de Demora/efeitos adversos , Humanos
12.
J Child Adolesc Psychopharmacol ; 15(6): 869-84, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16379507

RESUMO

Treatment-emergent adverse events (AEs) were monitored during an 8-week, double-blind, placebo-controlled trial of risperidone (0.5-3.5 mg/day) in 101 children and adolescents with a lifetime diagnosis of autistic disorder. In addition, 37 placebo nonresponders received open-label risperidone for another 8 weeks. Of all the risperidone responders (n=65), 63 entered an open extension of another 16 weeks (6 months total risperidone exposure), and 32 of them were rerandomized to either continued risperidone therapy (n=16) or gradual replacement with placebo (n=16) over 8 weeks. We collected the following measures of safety and tolerability: (1) laboratory blood assessments (CBC with differential, electrolytes, and liver function tests) and urinalyses, (2) vital signs, (3) Side Effects Review of AEs thought to be associated with risperidone, (4) sleep records, (5) Simpson Angus Neurological Rating Scale (SARS), (6) Abnormal Involuntary Movement Scale (AIMS), and (7) height and weight. No clinically significant changes were found on the lab tests. During the 8-week acute trial, the most common AEs on the Side Effects Review, scored as moderate or higher, were as follows (placebo and risperidone, respectively): Somnolence (12% and 37%), enuresis (29% and 33%), excessive appetite (10% and 33%), rhinitis (8% and 16%), difficulty waking (8% and 12%), and constipation (12% and 10%). "Difficulty falling asleep" and anxiety actually favored the risperidone condition at statistically significant levels. The same AEs tended to recur through 6 months of treatment, although often at reduced levels. Using Centers for Disease Control (CDC) standardized scores, both weight and body mass index (BMI) increased with risperidone during the acute trial (0.5 and 0.6 SDs, respectively, for risperidone; 0.0 and 0.1 SDs, respectively, for placebo) and into open-label extension (0.19 and 0.16 SDs, respectively), although the amount of gain decelerated with time. Extrapyramidal symptoms, as assessed by the SARS, were no more common for drug than placebo, although drooling was reported more often in the risperidone group. There were no differences between groups on the AIMS. Two subjects had seizures (one taking placebo), but these were considered unrelated to active drug. Most AEs were mild to moderate and failed to interfere with therapeutic changes; there were no unanticipated AEs. The side effects of most concern were somnolence and weight gain.


Assuntos
Antipsicóticos/efeitos adversos , Transtorno Autístico/tratamento farmacológico , Risperidona/efeitos adversos , Adolescente , Sistemas de Notificação de Reações Adversas a Medicamentos , Antipsicóticos/administração & dosagem , Transtorno Autístico/diagnóstico , Transtorno Autístico/psicologia , Índice de Massa Corporal , Peso Corporal/efeitos dos fármacos , Criança , Pré-Escolar , Distúrbios do Sono por Sonolência Excessiva/induzido quimicamente , Relação Dose-Resposta a Droga , Método Duplo-Cego , Feminino , Humanos , Assistência de Longa Duração , Masculino , Risperidona/administração & dosagem
14.
Pediatr Ann ; 32(10): 696-700, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14606220

RESUMO

The epidemiology of the autistic spectrum disorders is changing. A clear increase in prevalence has been noted during the past 2 decades. What is less clear is the cause for this increase. Multiple factors appear to be responsible. The preponderance of evidence suggests most of the rise in incidence and prevalence is related to changes in diagnostic criteria and greater awareness on the part of both professionals and parents. Proposed theories of causation, which also seek to explain the increase in prevalence, have not been substantiated. Further research is needed to better determine the incidence and prevalence of these disorders and their etiologic factors.


Assuntos
Transtorno Autístico/epidemiologia , Transtorno Autístico/etiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/induzido quimicamente , Criança , Pré-Escolar , Humanos , Incidência , Deficiência Intelectual/epidemiologia , Transtornos do Desenvolvimento da Linguagem/induzido quimicamente , Vacina contra Sarampo-Caxumba-Rubéola/efeitos adversos , Conservantes Farmacêuticos/efeitos adversos , Prevalência , Timerosal/efeitos adversos
17.
Res Dev Disabil ; 30(2): 386-96, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-18768293

RESUMO

This study was designed to explore the placebo-controlled effects of risperidone on cognitive-motor processes, dyskinetic movements, and behavior in children receiving maintenance risperidone therapy. Sixteen children aged 4-14 years with disruptive behavior were randomly assigned to drug order in a crossover study of risperidone and placebo for 2 weeks each. Dependent measures included tests of sustained attention, memory, visual matching, tremor, seat activity, abnormal movements, and parent behavior ratings. Results were compared by repeated measures ANOVA. Fourteen boys and 2 girls with disruptive behavior and IQ

Assuntos
Antipsicóticos/uso terapêutico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/tratamento farmacológico , Cognição/efeitos dos fármacos , Antagonistas de Dopamina/uso terapêutico , Discinesias/tratamento farmacológico , Destreza Motora/efeitos dos fármacos , Risperidona/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino
18.
Congenit Heart Dis ; 1(4): 169-74, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18377542

RESUMO

OBJECTIVE: Down syndrome patients are at increased risk for developing pulmonary hypertension (PHTN). Nitric oxide (NO) is an important factor for pulmonary vasoreactivity. Various endothelial nitric oxide synthase (eNOS) polymorphisms have been shown to affect NO. The goal of this study was to determine whether there was a difference in prevalence of eNOS polymorphisms between Down syndrome patients vs. non-Down syndrome patients. METHODS: Down syndrome patients were recruited as well as non-Down syndrome patients. Gene polymorphisms for eNOS-3 (GG, GT, TT), eNOS-4 (bb, ba, aa), and eNOS-P (TT, TC, CC) were determined. Three forms of the 3 genes were compared in cross-tabulation tables with Down syndrome patients vs. non-Down syndrome patients and Down syndrome patients with heart defects vs. those without defects. Association was tested with chi-square and significance was set at P < or = .05. RESULTS: Fifty-one Down syndrome patients and 411 controls were studied. Twenty-one Down syndrome patients had heart defects and 6 of these patients had documented PHTN. There was no difference in gender between Down syndrome patients (males 56.9%) and controls (males 50.4%), P = .38. Prevalence of eNOS polymorphisms between Down syndrome patients and controls was not different for the genes (eNOS-3, P = .94; eNOS-4, P = .40; eNOS-P, P = .18). There was no difference in gene polymorphisms between Down syndrome patients with heart defects vs. those without defects (eNOS-3, P = .19; eNOS-4, P = .29; eNOS-P, P = .99). CONCLUSION: Prevalence of various eNOS polymorphisms between Down syndrome patients and controls was not different. Other polymorphisms that are associated with PHTN should be studied to determine whether they may be the cause of the increased risk of PHTN in Down syndrome patients.


Assuntos
Síndrome de Down/complicações , Síndrome de Down/genética , Frequência do Gene , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/genética , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença/epidemiologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/genética , Humanos , Masculino , Óxido Nítrico/biossíntese , Prevalência
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