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1.
Child Care Health Dev ; 50(4): e13287, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38958339

RESUMO

BACKGROUND: Children have a right to participate in matters affecting their lives. With increasing regularity, children's perspectives are being sought regarding their health and health care experiences. Though there is evidence that children find play to be one of the 'best' aspects of hospitalisation, studies rarely focus on children's perspectives on play in hospital. METHODS: This qualitative study explored children's lived experiences of play during hospitalisation. Over five months, ethnographic observations were conducted on a paediatric oncology ward as well as interviews with 16 children ages 3-13 years. RESULTS: Using interpretative phenomenological analysis, children's expressions and experiences illuminated three key points: safety and comfort are integral to children feeling able to play in hospital; the value and efficacy of play is decided by children; and that play is a way for patients to be (and be treated as) children first. CONCLUSION: Hospitals can only be child-friendly if children find them friendly. Listening to and integrating children's perspectives in the discourse around the importance of play in hospital is essential for respecting children's rights and delivering person-centred paediatric healthcare.


Assuntos
Criança Hospitalizada , Jogos e Brinquedos , Pesquisa Qualitativa , Humanos , Criança , Masculino , Feminino , Jogos e Brinquedos/psicologia , Pré-Escolar , Adolescente , Criança Hospitalizada/psicologia , Hospitalização
2.
Eur J Pediatr ; 183(4): 1595-1605, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38183437

RESUMO

Although play has existed in paediatric hospitals for decades, a shared understanding of why and how healthcare professionals use play in clinical practice is lacking. This study aims to reach consensus on a common set of principles and competencies for play interventions and practices in hospitals. We conducted a three-round Delphi study that included healthcare professionals selected by hospital management. The first round comprised open-ended questions on the use of play in clinical practice. Principles and competencies, including learning objectives, were established using content analysis through an iterative process. Participants rated the importance of each principle and learning objective in the second and third rounds. Among the 66 participants, 45 (68%) responded in round 1 and 41 (62%) in rounds 2 and 3. The participants represented ten countries and nine different health professions. After the three rounds, we identified 33 principles and six overall competencies: building trusting relationships; delivering information and increasing understanding; promoting cooperation and participation; reducing procedure-related anxiety and pain; supporting coping and development; and ensuring a professional approach to play, which comprised 20 learning objectives.  Conclusion: According to healthcare professionals, play in clinical practice can be used to communicate and build relationships with paediatric patients and thus potentially help provide patient-centred care. Our findings may help guide and prioritize future research initiatives and operationalize play interventions and practices in hospitals. What is Known: • Evidence suggests that using play in clinical practice can help paediatric patients during hospitals stays. • Despite the evidence supporting the use of play, a shared understanding of why and how paediatric healthcare professionals use play is needed. What is New: • This international Delphi study contributes to a shared interprofessional understanding of the principles, competencies and learning objectives for the use of play in clinical practice. • The findings have the potential to aid initiatives in developing training programmes for healthcare professionals in using play to provide care with a patient-centred approach.


Assuntos
Competência Clínica , Pessoal de Saúde , Humanos , Criança , Consenso , Técnica Delphi , Hospitais
3.
Med Teach ; : 1-11, 2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38098168

RESUMO

BACKGROUND: Play can help paediatric patients cope with hospitalisation. Education on the use of play for healthcare professionals (HCPs) is lacking, with playful interactions often occurring unsystematically without formal training. This scoping review systematically describe the frameworks, design, and evaluation methods of educational programmes for HCPs on the use of play in paediatric clinical practice. METHODS: We conducted the scoping review by searching nine databases for white literature and websites for grey literature. Two reviewers independently screened titles/abstracts and reviewed full texts. Kirkpatrick's evaluation model was applied to report the evaluation methods of educational programmes. RESULTS: After identifying 16534 white and 955 grey items we included twenty articles but no grey literature. The educational programmes vaguely defined play for procedural and normalising purposes and mostly targeted mono-professional groups, mainly nurses. The evaluation methods identified in the articles were reported in accordance with Kirkpatrick levels 1: reaction (n = 13); 2a: attitude (n = 7); 2b: knowledge (n = 3); 3: behaviour (n = 6); 4a: organisational practice (n = 1) and 4b: patient outcomes (n = 4). CONCLUSION: The few educational programmes available on the use of play for HCPs are not uniformly described. Future educational programmes would benefit from integrating the needs of HCPs, patients and parents, and using a theoretical framework and systematic evaluation.

4.
Simul Healthc ; 2023 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-37094370

RESUMO

INTRODUCTION: Although most cases of pediatric convulsive status epilepticus start in the prehospital setting, many patients do not receive treatment. The use of prehospital seizure rescue medications by caregivers is crucial, but studies suggest a lack of proper training on medication use. METHODS: We created a novel proof of principle mannequin and simulation for training proper administration of rectal diazepam, with a scoring paradigm to standardize and assess the educational process. RESULTS: Twenty-three health care providers (nurses and nurse practitioners, residents/fellows, and attending physicians) and 5 patient guardians/parents were included in the study. The rectal diazepam simulator displayed a high degree of physical and emotional realism (mean ≥ 4/5 on Likert scale survey) that effectively decreased time to treatment (-12.3 seconds; SD, 16.3) and improved the accuracy of medication delivery in a simulation setting (-4.2 points; SD, 3.1). The scoring technique had appropriate interrater reliability (≥86% on all but 2 prompts) and was a feasible instrument to assess the effectiveness of the educational intervention. CONCLUSIONS: A unique procedure-focused child simulator and rescue medication score offer an innovative and effective means to train caregivers on the use of lifesaving seizure rescue medications.

5.
J Emerg Nurs ; 49(4): 631-639, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36872198

RESUMO

INTRODUCTION: Pediatric port access can be challenging in the emergency department; however, it must be performed promptly and safely. Port education for nurses traditionally includes procedural practice on adult-size, tabletop manikins, which lacks the situational and emotional aspects inherent in pediatrics. The purpose of this foundational study was to describe the knowledge and self-efficacy gain from a simulation curriculum that promotes effective situational dialogue and sterile port access technique, while incorporating a wearable port trainer to enhance simulation fidelity. METHODS: An educational intervention impact study was conducted using a curriculum integrating a comprehensive didactic session with simulation. A unique element included a novel port trainer worn by a standardized patient, along with a second actor portraying a distressed parent at the bedside. Participants completed precourse and postcourse surveys on the day of simulation and a 3-month follow-up survey. Sessions were video recorded for review and content analysis. RESULTS: Thirty-four pediatric emergency nurses participated in the program and demonstrated an overall increase in knowledge and self-efficacy with port access that was sustained at the 3-month follow-up. Data revealed positive feedback regarding the participants' simulation experience. DISCUSSION: Effective port access education for nurses requires a comprehensive curriculum integrating procedural aspects and situational techniques to address the components of a true port access experience involving pediatric patients and families. Our curriculum successfully combined skill-based practice with situational management, and promoted nursing self-efficacy and competence with port access in the pediatric population.


Assuntos
Currículo , Enfermeiras e Enfermeiros , Adulto , Humanos , Criança , Competência Clínica
6.
Spine Deform ; 9(5): 1363-1370, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33689156

RESUMO

PURPOSE: Spinal fusion surgery is associated with high levels of stress and anxiety for patients and their caregivers. Medical simulation has demonstrated efficacy in improving preparedness, knowledge, and overall experience prior to other medical procedures. The current study examines the utility of a multi-faceted preparation program (SIMDiscovery) using simulation techniques to reduce anxiety and increase preparedness among patients undergoing spinal fusion surgery and their caregivers. METHODS: Participants attended SIMDiscovery where they received hands-on preparation about what to expect before, during, and after their surgery. Anxiety, preparedness, and knowledge about the procedure were assessed pre- and post-participation using self-report measures. Participants also completed a questionnaire at their first post-operative medical appointment. Differences from pre to post and between patients and caregivers were calculated with paired and independent sample t-tests. RESULTS: Participants included 22 patients and 29 caregivers. Post-SIMDiscovery, both groups demonstrated increased knowledge for the surgical process and lower state anxiety. Patients reported increased feelings of preparedness in all areas while caregivers reported increased feelings of preparedness in most areas. Families continued to report positive impact of the program 30 days after surgery; however, they also identified areas where they desired increased preparation. CONCLUSIONS: SIMDiscovery increased patients' and caregivers' knowledge regarding spinal fusion surgery and helped them feel less anxious and more prepared regarding most aspects of the surgical process. These changes were generally maintained throughout the post-operative period. Participants identified areas for increased preparation, highlighting the importance of continuing to adapt programs based on patient and family feedback. LEVEL OF EVIDENCE: Level III.


Assuntos
Fusão Vertebral , Adolescente , Ansiedade/etiologia , Ansiedade/prevenção & controle , Cuidadores , Humanos , Aceitação pelo Paciente de Cuidados de Saúde , Inquéritos e Questionários
7.
BMJ Simul Technol Enhanc Learn ; 7(6): 471-477, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35520977

RESUMO

Introduction: Stress may serve as an adjunct (challenge) or hindrance (threat) to the learning process. Determining the effect of an individual's response to situational demands in either a real or simulated situation may enable optimisation of the learning environment. Studies of acoustic analysis suggest that mean fundamental frequency and formant frequencies of voice vary with an individual's response during stressful events. This hypothesis is reviewed within the otolaryngology (ORL) simulation environment to assess whether acoustic analysis could be used as a tool to determine participants' stress response and cognitive load in medical simulation. Such an assessment could lead to optimisation of the learning environment. Methodology: ORL simulation scenarios were performed to teach the participants teamwork and refine clinical skills. Each was performed in an actual operating room (OR) environment (in situ) with a multidisciplinary team consisting of ORL surgeons, OR nurses and anaesthesiologists. Ten of the scenarios were led by an ORL attending and ten were led by an ORL fellow. The vocal communication of each of the 20 individual leaders was analysed using a long-term pitch analysis PRAAT software (autocorrelation method) to obtain mean fundamental frequency (F0) and first four formant frequencies (F1, F2, F3 and F4). In reviewing individual scenarios, each leader's voice was analysed during a non-stressful environment (WHO sign-out procedure) and compared with their voice during a stressful portion of the scenario (responding to deteriorating oxygen saturations in the manikin). Results: The mean unstressed F0 for the male voice was 161.4 Hz and for the female voice was 217.9 Hz. The mean fundamental frequency of speech in the ORL fellow (lead surgeon) group increased by 34.5 Hz between the scenario's baseline and stressful portions. This was significantly different to the mean change of -0.5 Hz noted in the attending group (p=0.01). No changes were seen in F1, F2, F3 or F4. Conclusions: This study demonstrates a method of acoustic analysis of the voices of participants taking part in medical simulations. It suggests acoustic analysis of participants may offer a simple, non-invasive, non-intrusive adjunct in evaluating and titrating the stress response during simulation.

8.
Simul Healthc ; 16(2): 120-127, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-32218091

RESUMO

SUMMARY STATEMENT: Changing healthcare systems and efforts to decrease medical costs have resulted in many more patients and caregivers (PCs) needing to manage life-sustaining therapies on their own. Given the potential for underpreparedness to result in increased morbidity and mortality, developing safe and efficient homecare training methods for PCs is essential. Medical simulation with PCs is an underused tool, which has the potential to decrease anxiety and increase preparedness through opportunities for repeated practice of medical procedures within a safe, controlled environment. This article describes the development of a hospital-based simulation service line for PCs, leveraging lessons learned from training for 250 patients and 450 caregivers in 14 different departments and subspecialties, and explains adaptations of standard simulation methods necessary for safe and effective use of simulation with this unique population. Process blueprint, examples of specific programs, as well as feedback from participants and clinicians are included.


Assuntos
Cuidadores , Atenção à Saúde , Simulação por Computador , Humanos
9.
Child Care Health Dev ; 47(2): 143-153, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33238034

RESUMO

Amidst the coronavirus disease 2019 (COVID-19) pandemic, there is uncertainty regarding potential lasting impacts on children's health and educational outcomes. Play, a fundamental part of childhood, may be integral to children's health during crises. We undertook a rapid review of the impact of quarantine, isolation and other restrictive environments on play and whether play mitigates adverse effects of such restrictions. Fifteen peer-reviewed studies were identified, spanning hospitals, juvenile and immigration detention and refugee camps. We found evidence of changes in children's access to play in crises and quarantine. These studies indicated how play might support children enduring isolation but lacked robust investigations of play as an intervention in mitigating impacts of restriction. Studies pertaining to children in isolation due to infectious disease outbreaks were notably absent. It is important that the potential effects of changes to such a crucial aspect of childhood are better understood to support children in this and future crises.


Assuntos
COVID-19/epidemiologia , Saúde da Criança , Jogos e Brinquedos , Quarentena/psicologia , Isolamento Social/psicologia , Criança , Humanos , Pandemias , SARS-CoV-2
10.
Neurourol Urodyn ; 39(4): 1178-1184, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32203630

RESUMO

AIMS: No one has assessed urodynamic studies (UDS) to determine those steps that elicit the greatest anxiety, distress, and pain in children. We sought to systematically evaluate a child's UDS experience to mollify these reactions. METHODS: Prospective study involving children aged ≥5 undergoing UDS over a 6-month period (from 10 December 2018 to 22 May 2019). Upon arrival, patients completed a visual analog scale for anxiety (VAS-A, 0-10) about the upcoming procedure. A research assistant assessed the patient's behavior during each major step of UDS using a validated brief behavioral distress scale. Nursing staff also obtained patients' pain ratings (0-10) for these key elements. Immediately after UDS, each child completed a posttest VAS-A along with a survey about the UDS experience. RESULTS: A total of 76 UDS were observed; almost half included sphincter needle electromyography (EMG). Mean patient VAS-A scores were 2.3 before UDS, compared to 0.8 afterward (P < .001). The highest proportion of distressful behaviors were observed during EMG needle (31%) and urethral catheter (29%) insertion, in agreement with the highest mean pain scores of 3.2 and 2.7, respectively. Fifty-four percent of children reported not being completely aware of what was going to happen before the procedure and 50% of those patients exhibited at least one interfering or potentially interfering behavior. Similarly, 60% of children with no prior history of UDS exhibited at least one interfering or potentially interfering behavior. CONCLUSIONS: EMG needle and urethral catheter placement, initial urodynamic testing and not knowing what to expect were associated with greater pain and distress during pediatric UDS.


Assuntos
Ansiedade/fisiopatologia , Dor/fisiopatologia , Uretra/fisiopatologia , Urodinâmica/fisiologia , Adolescente , Adulto , Ansiedade/psicologia , Criança , Pré-Escolar , Eletromiografia , Feminino , Humanos , Masculino , Dor/psicologia , Estudos Prospectivos , Inquéritos e Questionários , Escala Visual Analógica , Adulto Jovem
11.
Schizophr Res ; 210: 228-238, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30685392

RESUMO

Little research has investigated the use of electrophysiological biomarkers in childhood and adolescence to distinguish early onset psychosis and the clinical high risk state. The P300 evoked potential is a robust neurophysiological marker of schizophrenia that is dampened in patients with schizophrenia and, less consistently, in those with affective psychoses and those at clinical high risk for psychosis (CHR). How it may differ between patients with psychotic disorders (PS) and CHR is less studied, especially in youth. The current study compared P300 activity among children and adolescents, aged 5-18 years, at CHR (n = 43), with PS (n = 28), and healthy controls (HC; n = 24). Participants engaged in an auditory event-related potential (ERP) task to elicit a P300 response and completed clinical interviews to verify symptoms and diagnoses. Linear regression analyses revealed a decrease in P300 amplitude with increased severity of psychotic symptoms. PS participants showed a diminished P300 response compared to those at CHR and HC, particularly among adolescents aged 13-18. This response was most evident at centroparietal and parietal locations in the right hemisphere. The findings suggest that high risk and psychotic symptomatology is linked to attenuated parietal P300 activity in youth as young as 13 years. Further exploration of the P300 as a biomarker for psychosis in very young patients could inform tailored, appropriate interventions at early stages of disease progression. Future research should evaluate whether specific phenotypic and genotypic characteristics are differentially associated with neurophysiological biomarkers and whether P300 attenuation in CHR youth can predict later symptom severity.


Assuntos
Córtex Cerebral/fisiopatologia , Transtorno Depressivo Maior/fisiopatologia , Potenciais Evocados P300/fisiologia , Potenciais Evocados Auditivos/fisiologia , Transtornos Psicóticos/fisiopatologia , Esquizofrenia/fisiopatologia , Adolescente , Percepção Auditiva/fisiologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Masculino , Risco
12.
Early Interv Psychiatry ; 13(4): 805-809, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-29575640

RESUMO

AIM: Previous research has demonstrated a strong association between early trauma exposure and the development of psychotic symptoms. However, few of these studies have included young adolescents and children. This study investigated rates and number of potentially traumatic experiences (PTEs) among typically developing youth (TD; n = 21), youth at clinical high risk for psychosis (CHR; n = 38), and youth with a psychotic disorder (PD; n = 28) between 7 and 18 years of age. CHR participants were further evaluated to determine whether a history of PTEs was associated with prodromal symptom severity. METHODS: Study group inclusion was determined by structured interviews. Trauma history was assessed using the post-traumatic stress disorder module of the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. CHR participants with vs without a history of PTEs were compared on severity of prodromal symptoms. RESULTS: CHR and PD participants reported significantly higher rates and numbers of PTEs than TD participants. Contrary to expectations and prior research, CHR participants with vs without a history of PTEs did not differ in prodromal symptom severity. Explanations and implications for the findings are discussed. CONCLUSIONS: These findings suggest that the relationship between trauma and the development of psychotic symptoms extends to children and adolescents as young as 7 years of age. This study underscores the importance of screening for trauma exposure among youth seeking treatment for psychotic symptoms.


Assuntos
Experiências Adversas da Infância/estatística & dados numéricos , Sintomas Prodrômicos , Transtornos Psicóticos/psicologia , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Fatores de Risco
13.
Schizophr Res ; 204: 304-310, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30077431

RESUMO

INTRO: One of the more debilitating functional outcomes of schizophrenia-spectrum disorders is social impairment. Previous studies have identified impaired social functioning both in the prodromal phase of psychosis and after acute symptoms abate, suggesting that social impairment represents a core deficit in psychosis not directly linked to psychotic episodes or symptom severity. To date, research in this area has focused primarily on adult populations rather than children, and has not directly assessed social language in individuals across the psychosis continuum. METHODS: 81 youth ages 7-18 (N = 24 Typically Developing [TD], N = 36 Clinical High Risk [CHR], N = 21 Psychotic Disorder [PD]) were recruited. Youth participants were administered the Social Language Development Test (SLDT), and parent(s)/guardian(s) completed the Social Responsiveness Scale-II (SRS-II). RESULTS: Social language ability was not associated with social impairment. PD participants performed significantly worse on the SLDT than TD participants. CHR and PD participants were both rated as having experienced significantly greater social impairment than TD participants on every subscale of the SRS-II. DISCUSSION: Deficits in social language ability and social functioning are strong candidates for phenotypic markers of psychosis, and may be evident earlier in development than previous work has demonstrated. Additionally, the severity of social impairment did not differ between CHR and PD participants, further supporting that social cognitive deficits and social impairment, while related to symptom severity, are discrete deficits in individuals with and at risk for psychosis. These results highlight the importance of addressing social skills for individuals presenting in clinical settings with psychotic symptoms, including children.


Assuntos
Idioma , Transtornos Psicóticos/fisiopatologia , Esquizofrenia/fisiopatologia , Habilidades Sociais , Adolescente , Criança , Feminino , Humanos , Masculino , Risco
14.
BMC Med Genet ; 19(1): 197, 2018 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-30424743

RESUMO

BACKGROUND: TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophrenia and childhood disintegrative disorder. CASE PRESENTATION: Here, we report on a patient with a de novo nonsynonymous TRRAP single-nucleotide variant (EST00000355540.3:c.5957G > A, p.Arg1986Gln) and early onset major depression accompanied by a psychotic episode (before age 10) that occurred in the context of longer standing nonverbal learning disability and a past history of obsessions and compulsions. CONCLUSIONS: The de novo variant and presentation of very early onset psychosis indicate a rare Mendelian disorder inheritance model. The genotype and behavioral abnormalities of this patient are reviewed.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Transtorno do Espectro Autista/genética , Deficiências da Aprendizagem/genética , Proteínas Nucleares/genética , Transtorno Obsessivo-Compulsivo/genética , Mutação Puntual , Transtornos Psicóticos/genética , Proteínas Adaptadoras de Transdução de Sinal/química , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Idade de Início , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/fisiopatologia , Criança , Expressão Gênica , Genótipo , Humanos , Deficiências da Aprendizagem/diagnóstico , Deficiências da Aprendizagem/fisiopatologia , Masculino , Análise da Randomização Mendeliana , Modelos Moleculares , Proteínas Nucleares/química , Proteínas Nucleares/metabolismo , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/fisiopatologia , Fenótipo , Conformação Proteica , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/fisiopatologia , Sequenciamento do Exoma
15.
BMC Res Notes ; 11(1): 568, 2018 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-30097053

RESUMO

OBJECTIVE: Suicidal thoughts and behaviors (STBs) are prevalent among youth with psychotic disorders (PD) relative to the general population. Recent research now suggests that STBs may present during the prodromal phase of the disease, or the clinical high risk (CHR) state. While this knowledge is important for the development of suicide prevention strategies in adolescent and adult populations, it remains unclear whether risk for suicide extends to children with or at risk for psychosis. The current study is an extension of previous work assessing STBs in youth across the psychosis continuum. We examine STBs in 37 CHR and PD children ages 7-13 years old, and further explore the prodromal symptom correlates of STB severity among CHR children. RESULTS: CHR and PD children endorsed STBs with a frequency and severity similar to what is observed in older CHR and PD populations. A number of children had never previously vocalized their suicidal plans or intent. Among CHR children, Social Anhedonia and Odd Behavior or Appearance were significantly correlated with STB severity. These findings underscore the importance of screening for STBs even in young children presenting with psychotic symptoms.


Assuntos
Transtornos Psicóticos/psicologia , Ideação Suicida , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Fatores de Risco , Tentativa de Suicídio
16.
Mol Genet Metab Rep ; 16: 23-29, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29922587

RESUMO

Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia. Whole exome sequencing showed three mutations in genes potentially involved in his clinical phenotype. The patient has a predicted pathogenic de novo heterozygous p.Ala681Thr mutation in the ATP1A3 gene (chr19:42480621C>T, GRCh37/hg19). Mutations in this gene are known to cause Alternating Hemiplegia of Childhood, Rapid Onset Dystonia Parkinsonism, and CAPOS syndrome, sometimes accompanied by autistic features. The patient also has compound heterozygosity for p.Arg490Lys/p.Val200Met mutations in the NLRP3 gene (chr1:247588214G>A and chr1:247587343G>A, respectively). NLRP3 mutations are associated in an autosomal dominant manner with clinically overlapping auto-inflammatory conditions including Muckle-Wells syndrome. The p.Arg490Lys is a known pathogenic mutation inherited from the patient's father. The p.Val200Met mutation, inherited from his mother, is a variant of unknown significance (VUS). Whether the de novoATP1A3mutation is responsible for or plays a role in the patient's episodes of fatigue and somnolence remains to be determined. The unprecedented combination of two NLRP3 mutations may be responsible for other aspects of his complex phenotype.

17.
Int J Psychophysiol ; 123: 143-151, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28965930

RESUMO

Recent research has suggested a role for the hormone oxytocin in social cognition and behavior. Administration of intranasal oxytocin modulates multiple brain regions during experimental tasks; however, the neural mechanisms that underscore the changes associated with oxytocin administration are yet to be fully elucidated. In a double-blind placebo controlled design using electroencephalography, the effects of intranasal oxytocin on neural oscillations (delta, theta, alpha, beta) and their coupling during the resting state were examined. Prior work suggested that coupling of slow and fast waves are indicative of the integration of motivational and cognitive processes. While neural oscillations were unaffected by oxytocin relative to placebo administration; oxytocin decreased delta-beta, delta-alpha, theta-alpha, and theta-beta coupling. These findings suggest that one mechanism through which intranasal oxytocin may modulate brain and behavior is through affecting the cross-frequency coupling of neural oscillations, a phenomenon that has been associated with specific cognitive and motivational states.


Assuntos
Ondas Encefálicas/efeitos dos fármacos , Sincronização de Fases em Eletroencefalografia/efeitos dos fármacos , Ocitocina/farmacologia , Administração Intranasal , Adolescente , Adulto , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Ocitocina/administração & dosagem , Adulto Jovem
18.
Biol Psychol ; 129: 45-48, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28800972

RESUMO

Event-related potentials (ERPs) have been widely employed to identify different stages of face processing, with recent research probing the neural dynamics of adult's processing of infant faces. Infant faces represent a salient category of visual stimuli, especially in parents, likely prioritized for processing through activity of the oxytocinergic system. Here we employed a randomized, double-blind, and within-subject crossover study of 24 non-parent women to examine the impact of intranasal oxytocin administration, relative to placebo, on processing infant and adult faces. Our main finding was that, relative to placebo, the P300 ERP elicited by infant faces was greater than the P300 elicited by adult faces in the oxytocin condition. Therefore, oxytocin administration may enhance the allocation of attention towards infant cues, even in non-parent women.


Assuntos
Sinais (Psicologia) , Potenciais Evocados/efeitos dos fármacos , Reconhecimento Facial/efeitos dos fármacos , Ocitócicos/administração & dosagem , Ocitocina/administração & dosagem , Administração Intranasal , Adulto , Atenção/efeitos dos fármacos , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Lactente
19.
Compr Psychiatry ; 78: 31-37, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28803039

RESUMO

BACKGROUND: Previous research has demonstrated elevated rates of suicide attempts and ideation in individuals with psychosis. This study investigated rates and severity of suicidal behavior in youth with and at clinical high risk for psychosis, and examined the positive, negative, and disorganized symptoms associated with suicidal behaviors among the clinical high risk group. METHODS: Eighty-six youth ages 7-18 (n=21 non-clinical controls [NCC], n=40 clinical high risk [CHR], n=25 diagnosed psychotic disorder [PD]) were recruited. CHR and PD participants were identified using the Structured Interview for Prodromal Symptoms (SIPS) and Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (KSADS-PL). All participants completed the Suicide Behaviors Questionnaire-Revised (SBQ-R). RESULTS: Findings indicated significantly higher levels of suicidal behavior among CHR and PD relative to NCC participants (F=7.64, p=0.001). 17.5% of CHR participants had previously attempted suicide. Dysphoric Mood and Odd Behavior or Appearance were significantly correlated with suicidal behavior severity among CHR youth. CONCLUSION: Suicidal behavior was observed with greater frequency and severity in the CHR and PD groups than in the NCC group. CHR suicidal behavior severity was correlated most strongly with Dysphoric Mood and Odd Behavior or Appearance, a relationship which warrants further investigation.


Assuntos
Sintomas Prodrômicos , Transtornos Psicóticos/psicologia , Ideação Suicida , Tentativa de Suicídio/psicologia , Adolescente , Criança , Feminino , Humanos , Masculino
20.
Schizophr Res ; 179: 13-16, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27707531

RESUMO

Suicide is the leading cause of premature death in individuals with psychotic disorders. Risk for onset of suicidal behaviors tends to begin in adolescence, remaining high into young adulthood. The present study aims to evaluate the interplay of early onset psychosis and suicide risk by examining suicidal behaviors (ideation, planning, and attempts) in children and adolescents with psychotic disorders (PD) compared to typically developing peers (TD). Twenty five youths were recruited and were diagnostically evaluated for psychosis. We found that the PD children exhibited significantly higher levels of suicidal behaviors than TD children, even when parsed into individual at-risk behaviors.


Assuntos
Comportamento do Adolescente/fisiologia , Comportamento Infantil/fisiologia , Transtornos Psicóticos/fisiopatologia , Ideação Suicida , Tentativa de Suicídio , Adolescente , Criança , Feminino , Humanos , Masculino
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