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1.
Sci Rep ; 14(1): 4392, 2024 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-38388799

RESUMO

Attention deficit and hyperactivity disorder (ADHD) affects many life aspects of children and adults. Accurate identification, diagnosis and treatment of ADHD can facilitate better care. However, ADHD diagnosis and treatment methods are subject of controversy. Objective measures can elevate trust in specialist's decision and treatment adherence. In this observational study we asked whether knowing that a computerized test was included in ADHD diagnosis process results in more trust and intention to adhere with treatment recommendations. Questionnaires were administered to 459 people, 196 men, average age = 40.57 (8.90). Questions regarding expected trust and adherence, trust trait, trust in physician and health-care-institutions, and ADHD scales followed a scenario about parents referred to a neurologist for sons' ADHD diagnosis. The scenario presented to the test group (n = 185) mentioned that a computerized test was part of the diagnostic process. The control group scenario didn't mention any computerized test in the diagnostic process. Test group participants expressed more trust in the diagnosis and greater levels of intention for treatment adherence. Group differences in intention for treatment adherence were mediated by trust in decision. Inclusion of a computerized test in ADHD diagnosis process can improve trust in the specialists' decision and elevate adherence levels.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Médicos , Masculino , Criança , Adulto , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Confiança , Inquéritos e Questionários , Cooperação e Adesão ao Tratamento
2.
Transl Psychiatry ; 13(1): 271, 2023 08 02.
Artigo em Inglês | MEDLINE | ID: mdl-37528107

RESUMO

Non-invasive brain stimulation has been suggested as a potential treatment for improving symptomology and cognitive deficits in Attention-Deficit/Hyperactivity Disorder (ADHD), the most common childhood neurodevelopmental disorder. Here, we examined whether a novel form of stimulation, high-frequency transcranial random noise stimulation (tRNS), applied with cognitive training (CT), may impact symptoms and neural oscillations in children with ADHD. We conducted a randomized, double-blind, sham-controlled trial in 23 unmedicated children with ADHD, who received either tRNS over the right inferior frontal gyrus (rIFG) and left dorsolateral prefrontal cortex (lDLPFC) or sham stimulation for 2 weeks, combined with CT. tRNS + CT yielded significant clinical improvements (reduced parent-reported ADHD rating-scale scores) following treatment, compared to the control intervention. These improvements did not change significantly at a 3-week follow-up. Moreover, resting state (RS)-EEG periodic beta bandwidth of the extracted peaks was reduced in the experimental compared to control group immediately following treatment, with further reduction at follow-up. A lower aperiodic exponent, which reflects a higher cortical excitation/inhibition (E/I) balance and has been related to cognitive improvement, was seen in the experimental compared to control group. This replicates previous tRNS findings in adults without ADHD but was significant only when using a directional hypothesis. The experimental group further exhibited longer sleep onset latencies and more wake-up times following treatment compared to the control group. No significant group differences were seen in executive functions, nor in reported adverse events. We conclude that tRNS + CT has a lasting clinical effect on ADHD symptoms and on beta activity. These results provide a preliminary direction towards a novel intervention in pediatric ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Estimulação Transcraniana por Corrente Contínua , Adulto , Humanos , Criança , Estimulação Transcraniana por Corrente Contínua/efeitos adversos , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Treino Cognitivo , Córtex Pré-Frontal/diagnóstico por imagem , Córtex Pré-Frontal/fisiologia , Função Executiva , Método Duplo-Cego
4.
Aust Occup Ther J ; 70(5): 627-640, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37392163

RESUMO

BACKGROUND: OT-ParentShip intervention addresses the needs of autistic adolescents and the physical and emotional burden associated with parental caregiving. AIM: This article describes the qualitative findings of a mixed-method, single-group, pre-test-post-test pilot study to determine whether this intervention has adequate potential for further, large-scale testing. METHOD: The qualitative study sought to understand 14 parents' (N = 4 couples, N = 6 mothers) experiences in the intervention, examine their satisfaction, and receive their suggestions for improvement, using a grounded approach, with the aim of conceptualising a theoretical understanding of the data gathered. RESULTS: A total of five key themes and 14 sub-themes describe parents' experiences. The key themes that were identified were parent-therapist relationship, parent-adolescent relationship, reframing, benefit for family, and parental resilience. Emerging themes shed light on the therapeutic components and change mechanisms of the intervention. CONCLUSION: Self-determination theory was found to be an adequate theoretical framework to map these components and help in understanding their contribution to treatment outcomes. OT-Parentship directly enforces parents' basic psychological needs, who, in turn, support their adolescent child's need for relatedness, competence, and autonomy. An occupational therapy intervention that satisfies these basic needs has the potential to lead to therapeutic alliance and internalisation of goals, thus increasing therapy engagement and outcomes.


Assuntos
Transtorno Autístico , Terapia Ocupacional , Criança , Feminino , Humanos , Adolescente , Projetos Piloto , Pais/psicologia , Mães
6.
J Cyst Fibros ; 22(4): 772-776, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37061352

RESUMO

BACKGROUND: The hallmarks of Cystic fibrosis (CF), chronic infection and inflammation, require intensive daily treatment to maintain and improve quality of life and outcome. The incidence of Attention Deficit/Hyperactivity Disorder (ADHD) is increased in chronic inflammatory diseases. Previous studies suggested that the prevalence of ADHD in people with CF (pwCF) is higher than in the general population. The objective of this study was to evaluate the association between ADHD symptoms and parameters of CF disease severity, measured by demographic and clinical data. METHODS: Based on our previous study, the results of ADHD questionnaires and the MOXOCPT (continuous performance task) from 143 pwCF (7-68 years old) were analyzed and linked to patient data such as forced expiratory volume in 1 second (FEV1)%predicted, body mass index (BMI), number of pulmonary exacerbations, days of antibiotic (Abx) treatment and serum inflammatory markers. RESULTS: A positive correlation between FEV1 and ADHD questionnaire's score (p = 0.046) was observed in the children's group. Furthermore, BMI, white blood cells (WBC) count, and days of Abx treatment showed a positive correlation with some of the MOXOCPT parameters. CONCLUSION: There is an association between ADHD symptoms and some parameters of CF disease severity. These results highlight the need for an early diagnosis of ADHD in pwCF, which have the potential to improve their ability to deal with the burden of their disease and consequently their quality of life. Additional research is needed to understand the full spectrum of ADHD pathophysiology and the relationship with chronic inflammatory diseases such as CF.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Fibrose Cística , Criança , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Qualidade de Vida , Gravidade do Paciente , Pulmão , Doença Crônica
7.
Crim Behav Ment Health ; 33(3): 172-184, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37057691

RESUMO

BACKGROUND: Attention deficit/hyperactivity disorder (ADHD) is known to be a risk factor for antisocial and delinquent behaviour, but there is still a lack of information on how features of ADHD relate to offending behaviour among adults not already defined by their offending. AIMS: Our aim was to add to knowledge about relationships between ADHD and antisocial behaviour among adults in the general population by answering the following questions: (A) Does the level of self-reported ADHD features relate to criminal and non-criminal antisocial behaviour? (B) To what extent are self-ratings of ADHD features independent of socio-demographic features previously identified as predictors of antisocial behaviour? METHODS: A sample of adults was originally recruited to study public response to the COVID-19 outbreak through an online panel to be representative of the Israeli population. Among other scales, the 2025 participants completed an ADHD self-report scale, an antisocial behaviour self-report scale and a socio-demographic questionnaire probing for age, gender, urbanity, place of birth, socioeconomic status (education and income), family status (being in a relationship and having children) and religiosity. RESULTS: Higher mean totals for the inattention and hyperactivity ADHD scale scores were associated with higher mean antisocial behaviour scores. These relationships were only slightly affected by socio-demographic variables, including sex, age, education and income. CONCLUSION: Our findings suggest that not only may features of ADHD, even below a diagnostic threshold, constitute a risk factor for antisocial behaviour, but also that the self-rated levels of these problems covary. These findings are important for informing the early detection of risk of antisocial behaviour in the general population and its prevention.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , COVID-19 , Criança , Humanos , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno da Personalidade Antissocial/epidemiologia , Transtorno da Personalidade Antissocial/diagnóstico , Inquéritos e Questionários , Autorrelato
8.
OTJR (Thorofare N J) ; 43(4): 600-607, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36793250

RESUMO

Online awareness is essential to learning from one's experiences, enabling adaptive self-management, often challenged among adolescents with attention-deficit hyperactivity disorder (ADHD). This study used an online awareness tool, the Occupational Performance Experience Analysis (OPEA), to examine (a) the online awareness of occupational performance of adolescents with ADHD and controls and (b) the potential modifiability of online awareness after a brief mediation redirecting attention to task demands and contextual factors. Seventy adolescents with and without ADHD were administered the OPEA after completing cognitive assessments. The OPEA comprises a verbal description of experiences, scored for representation of main actions, temporal context, and coherence, completed again after mediation. Results point to significantly less coherent descriptions of occupational performance among adolescents with ADHD compared with adolescents without ADHD; modifiability was only examined in the ADHD group and demonstrated significantly more coherent descriptions after mediation. Findings may elucidate online awareness of occupational performance as an occupational therapy intervention target for adolescents with ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Terapia Ocupacional , Autogestão , Humanos , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Terapia Ocupacional/métodos
9.
Am J Occup Ther ; 76(6)2022 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-36485012

RESUMO

IMPORTANCE: Adolescents with attention deficit hyperactivity disorder (ADHD) often experience difficulties with executive function and participation in life roles. Ecologically valid performance-based tests (PBTs) are needed to assess functional cognition in this population. OBJECTIVE: To examine the known-groups, concurrent, and ecological validity of a functional cognition PBT, the Hebrew version of the Weekly Calendar Planning Activity (WCPA) Middle/High School Version, among adolescents with and without ADHD. DESIGN: Cross-sectional between-groups design. SETTING: Community. PARTICIPANTS: One hundred two adolescents (ages 12-18 yr), with (n = 52) and without (n = 50) ADHD. OUTCOMES AND MEASURES: The Hebrew version of the WCPA Middle/High School Version, MOXO™-Continuous Performance Test (MOXO-CPT), Behavior Rating Inventory of Executive Function (BRIEF) parent form, and Child and Adolescent Scale of Participation (CASP). RESULTS: The results showed significant between-groups differences with medium to large effect sizes for scores on most WCPA measures, with the ADHD group receiving significantly lower scores. Significant correlations in the expected direction were found between scores on the MOXO-CPT Attention and Hyperactivity indices and WCPA measures. Significant correlations were also found between most WCPA measures and the BRIEF Global Executive Composite (GEC) and the CASP. Multiple linear regression on the CASP indicated that the WCPA strategy score and the BRIEF GEC were significant predictors in the model. CONCLUSIONS AND RELEVANCE: Results support the known-groups validity of the WCPA Middle/High School Version between adolescents with and without ADHD. Concurrent and ecological validity were supported by significant associations with measures of cognition and participation. What This Article Adds: These results reinforce the premise that the WCPA Middle/High School Version can be implemented as a valid measure of functional cognition among adolescents with ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Adolescente , Criança , Humanos , Estudos Transversais , Função Executiva , Cognição , Instituições Acadêmicas , Testes Neuropsicológicos
10.
Front Hum Neurosci ; 16: 895835, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36158626

RESUMO

Children diagnosed with type 1 diabetes mellitus (T1DM) are at risk for neurocognitive sequelae, including impaired attention functioning. The specific nature of the cognitive deficit varies; current literature underscores early age of diabetes diagnosis and increased disease duration as primary risk factors for this neurocognitive decline. Forty-three children with T1DM were evaluated for Attention Deficit/Hyperactivity Disorder (ADHD) symptomatology using the MOXO continuous performance test (MOXO-CPT) performed during a routine outpatient evaluation. The study cohort demonstrated a significant decline in all four domains of attention functioning. The effect was most pronounced with early age at T1DM diagnosis, a longer disease duration and with poorer glycemic control (represented by higher HbA1c values). With increased disease duration (of 5 plus years), acute hyperglycemia was associated with inattention in the real-time setting. These findings highlight the need for routine screening of neurocognitive function in children with T1DM so that early intervention can be employed during this crucial period of cognitive development.

11.
Front Hum Neurosci ; 16: 791478, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35966992

RESUMO

Objective: Processing Speed (PS), the ability to perceive and react fast to stimuli in the environment, has been shown to be impaired in children with attention deficit hyperactivity disorder (ADHD). However, it is unclear whether PS can be improved following targeted treatments for ADHD. Here we examined potential changes in PS following application of transcranial electric stimulation (tES) combined with cognitive training (CT) in children with ADHD. Specifically, we examined changes in PS in the presence of different conditions of mental fatigue. Methods: We used a randomized double-blind active-controlled crossover study of 19 unmedicated children with ADHD. Participants received either anodal transcranial direct current stimulation (tDCS) over the left dorsolateral prefrontal cortex (dlPFC) or transcranial random noise stimulation (tRNS), while completing CT, and the administration order was counterbalanced. PS was assessed before and after treatment using the MOXO-CPT, which measures PS in the presence of various conditions of mental fatigue and cognitive load. Results: tRNS combined with CT yielded larger improvements in PS compared to tDCS combined with CT, mainly under condition of increased mental fatigue. Further improvements in PS were also seen in a 1-week follow up testing. Conclusion: This study provides initial support for the efficacy of tRNS combined with CT in improving PS in the presence of mental fatigue in pediatric ADHD.

12.
Artigo em Inglês | MEDLINE | ID: mdl-35270233

RESUMO

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) and sensation-seeking, a trait characterized by risk-related behaviors, have been recognized as risk factors in substance use disorder (SUD). Though ADHD co-occurs with sensory modulation dysfunction (SMD), SMD has scarcely been explored in SUD. Thus, this study aimed to characterize ADHD symptomology, sensation-seeking, and SMD, as well as to explore their contribution to SUD likelihood. METHODS: A cross sectional two-group comparative study including therapeutic community residents with SUD (n = 58; study group) and healthy individuals (n = 62; comparison group) applying the MOXO continuous performance test (MOXO-CPT) evaluating ADHD-related symptoms. In addition, participants completed the ADHD Self-Report Scale-Version 1.1 for ADHD screening; the Brief Sensation Seeking Scale quantifying risk-taking behaviors; and the Sensory Responsiveness Questionnaire-Intensity Scale for identifying SMD. RESULTS: The study group demonstrated higher SMD incidence (53.57% vs. 14.52%) and lower performance in three MOXO-CPT indexes: Attention, Impulsivity, and Hyperactivity, but not in Timing, compared to the comparison group. Sensory over-responsiveness had the strongest relationship with SUD, indicating 27-times increased odds for SUD (95% CI = 5.965, 121.216; p ≤ 0.0001). A probability risk index is proposed. CONCLUSION: We found SMD with the strongest relation to SUD exceeding that of ADHD, thus contributing a new perspective for developing future therapeutic modalities. Our findings highlight the need to address SMD above and beyond ADHD symptomology throughout the SUD rehabilitation.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtornos Relacionados ao Uso de Substâncias , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Estudos Transversais , Humanos , Comportamento Impulsivo , Sensação , Transtornos Relacionados ao Uso de Substâncias/terapia
13.
J Atten Disord ; 26(6): 870-880, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34378435

RESUMO

OBJECTIVE: Executive function deficits (EFD) are a central mechanism underlying negative outcomes in ADHD. This study examined awareness of EFD manifested in "real-time" task performance (Online Awareness) and in general self-knowledge of daily activities, outside the context of a specific task (Intellectual Awareness) among adolescents with and without ADHD. METHODS: 102 adolescents with (n = 52) and without (n = 50) ADHD were administered Weekly Calendar Planning Activity (WCPA) and Behavior Rating Inventory of Executive Function (BRIEF). Parents completed the BRIEF parent version. Awareness was defined using the discrepancy paradigm: performance versus estimation on WCPA for online awareness; self versus parent report on the BRIEF for intellectual awareness. RESULTS: Adolescents with ADHD overestimated their performance on the WCPA and underestimated their EFD on the BRIEF compared to parent's ratings. The discrepancy scores in both types of awareness were significantly larger among ADHD than controls (p < .005). CONCLUSIONS: Adolescents with ADHD demonstrate significantly lower rates of online and intellectual awareness of EFD compared to controls.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Função Executiva , Adolescente , Conscientização , Humanos , Testes Neuropsicológicos , Autoimagem , Análise e Desempenho de Tarefas
14.
J Public Health (Oxf) ; 44(1): e117-e125, 2022 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-34159382

RESUMO

BACKGROUND: To determine factors that predict non-adherence to preventive measures for COVID-19 during the chronic phase of the pandemic. METHODS: A cross-sectional, general population survey was conducted in Israel. Sociodemographic, health-related, behavioral and COVID-19-related characteristics were collected. RESULTS: Among 2055 participants, non-adherence was associated with male gender, young age, bachelorhood, being employed, lower decrease in income, low physical activity, psychological distress, ADHD symptoms, past risk-taking and anti-social behavior, low pro-sociality, perceived social norms favoring non-adherence, low perceived risk of COVID-19, low perceived efficacy of the preventive measures, and high perceived costs of adherence to the preventive measures. CONCLUSION: There appears to be a need for setting out and communicating preventive measures to specifically targeted at-risk populations.


Assuntos
COVID-19 , Pandemias , COVID-19/prevenção & controle , Estudos Transversais , Humanos , Masculino , Pandemias/prevenção & controle , Saúde Pública , SARS-CoV-2 , Inquéritos e Questionários
15.
J Atten Disord ; 26(5): 735-746, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34184907

RESUMO

OBJECTIVE: The COVID-19 outbreak created numerous multidimensional stressors, to which people show different levels of vulnerability. The current paper examines whether symptoms of ADHD are associated with poorer adaptation. METHOD: After the first quarantine in Israel, 2,055 adults participated in an online survey. Participants completed scales probing adaptation indicators: financial status, adherence to preventive measures, mental health, and COVID-19 related perceptions. Background measures, including the level of symptoms of ADHD, were collected. RESULTS: Adaptation indicators negatively correlated with the level of symptoms of ADHD. Financial decline explained a small portion of the link between ADHD and decreased mental health. Background risk-taking, anti-social, and pro-social behavior partially explained the link between ADHD and non-adherence to preventive measures. COVID-19 related perceptions also partially explained that link. CONCLUSION: This study suggests that people with ADHD are more vulnerable to the challenges created by the COVID-19 pandemic and therefore deserve special attention and care.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , COVID-19 , Angústia Psicológica , Adaptação Psicológica , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Humanos , Pandemias , SARS-CoV-2
16.
Mod Rheumatol ; 32(2): 422-426, 2022 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-34758078

RESUMO

OBJECTIVES: Previous studies suggest that exposure to inflammation in infancy may increase the risk for attention-deficit and hyperactivity disorder (ADHD). We studied the ADHD manifestations among 124 familial Mediterranean fever (FMF) patients and examined the relationship between FMF patient characteristics and ADHD. METHODS: Clinical, demographic, and genetic data were abstracted from patients' medical records and supplemented by information obtained during clinic visits. ADHD manifestations were assessed using the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) questionnaire. RESULTS: ADHD was diagnosed in 42 (32.8%) FMF patients, a rate significantly higher than in unselected populations (∼8%). A majority (n = 27, 64.3%) had combined inattentive, hyperactive-impulsive manifestations. Eight (19%) had predominantly hyperactive-impulsive, and seven (16.6%) had predominantly inattentive symptoms. FMF patients with severe manifestations reported more ADHD symptoms. FMF patients with ADHD symptoms were less adherent to their treatment regimen, with only 61.9% of the patients with ADHD symptoms adhering to colchicine therapy compared to 92.7% of the patients without ADHD symptoms. CONCLUSION: The high prevalence of ADHD characteristics in children with FMF may support the neuroimmune hypothesis that chronic inflammation increases the risk for ADHD. Children with FMF should be screened for ADHD as its presence may adversely affect adherence to treatment.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Febre Familiar do Mediterrâneo , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/epidemiologia , Humanos , Prevalência , Inquéritos e Questionários
17.
Genome Med ; 13(1): 63, 2021 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-33874999

RESUMO

BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. METHODS: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. RESULTS: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs. CONCLUSIONS: Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.


Assuntos
Predisposição Genética para Doença , Ribonucleoproteínas Nucleares Heterogêneas/genética , Mutação/genética , Transtornos do Neurodesenvolvimento/genética , Encéfalo/metabolismo , Variações do Número de Cópias de DNA/genética , Regulação da Expressão Gênica , Estudos de Associação Genética , Variação Genética , Ribonucleoproteínas Nucleares Heterogêneas/metabolismo , Humanos , Padrões de Herança/genética , Mutação de Sentido Incorreto/genética , Fenótipo , Processamento Pós-Transcricional do RNA/genética , Análise de Célula Única
18.
Isr Med Assoc J ; 23(4): 214-218, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33899352

RESUMO

BACKGROUND: The effect of extended shift length on pediatric residency is controversial. Israeli residents perform shifts extending up to 26 hours, a practice leading to general dissatisfaction. In early 2020, during the coronavirus disease-2019 (COVID-19) pandemic, many Israeli hospitals transitioned from 26-hour shifts to 13-hour shifts in fixed teams (capsules) followed by a 24-hour rest period at home. The regulation changes enacted by the Israeli government during the COVID-19 pandemic provided a rare opportunity to assess perception by residents regarding length of shifts before and after the change. OBJECTIVES: To assess perception of pediatric residency in three aspects: resident wellness, ability to deliver quality healthcare, and acquisition of medical education following the change to the shorter shifts model. METHODS: We performed a prospective observational study among pediatric residents. Residents completed an online self-assessment questionnaire before and after the COVID-19 emergency regulations changed toward shorter shifts. RESULTS: Sixty-seven residents answered the questionnaires before (37) and after (30) the shift changes. The average score was significantly better for the 13-hour shifts versus the 26-hour shifts, except for questions regarding available time for research. There was a positive perception regarding the shorter night shifts model among pediatric residents, with an increase in general satisfaction and improvement in perception of general wellness, ability to deliver quality healthcare, and medical education acquisition. CONCLUSIONS: Following the change to shorter shift length, perception of pediatric residents included improvement in wellness, ability to deliver quality healthcare, and availability of medical education.


Assuntos
Atitude do Pessoal de Saúde , COVID-19 , Internato e Residência , Assistência ao Paciente , Pediatria/educação , Qualidade de Vida , Jornada de Trabalho em Turnos/estatística & dados numéricos , Adulto , Feminino , Humanos , Masculino , Estudos Prospectivos , Fatores de Tempo
19.
Clin Neurophysiol ; 132(3): 699-707, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33561725

RESUMO

OBJECTIVE: Improving symptomology and cognitive deficits in neurodevelopmental disorders is a crucial challenge. We examined whether neurostimulation protocols, which have been shown to yield long-term effects when combined with cognitive training, could benefit children with Attention-deficit/hyperactivity-disorder (ADHD), the most common neurodevelopmental disorder in childhood. METHODS: We used a randomized double-blind active-controlled crossover study of 19 unmedicated children with ADHD, who received either anodal transcranial direct current stimulation (tDCS) over the left dorsolateral prefrontal cortex (dlPFC) or random noise stimulation (tRNS) over the bilateral dlPFC, while completing executive functions training. RESULTS: For our primary outcome, tRNS yielded a clinical improvement as indicated by the reduced ADHD rating-scale score from baseline, and in comparison to the changes observed in tDCS. The effect of brain stimulation one week after completion of treatment yielded further improvement, suggesting a neuroplasticity-related effect. Finally, tRNS improved working memory compared to tDCS, and a larger tRNS effect on ADHD rating-scale was predicted for those who showed the greatest improvement in working memory. CONCLUSIONS: We found that our intervention can have a lasting effect, rather than a merely immediate effect as was shown for in previous medical interventions in ADHD. SIGNIFICANCE: Our results provide a promising direction toward a novel intervention in ADHD.


Assuntos
Estimulação Acústica/métodos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Córtex Pré-Frontal/fisiologia , Estimulação Transcraniana por Corrente Contínua/métodos , Criança , Estudos Cross-Over , Método Duplo-Cego , Função Executiva/fisiologia , Feminino , Humanos , Masculino
20.
Med Educ ; 55(2): 174-184, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32697336

RESUMO

OBJECTIVES: Insufficient sleep affects circadian hormonal profiles and inflammatory markers and may modulate attention, executive functioning and decision-making. Medical professionals and specifically resident physicians, who are involved in long-term nightshift schedules during their post-graduate training, are prone to acute and chronic sleep deprivation and disruption, putting them at risk for making medical errors. The aim of the study was to evaluate the impact of chronic and acute-on-chronic sleep deprivation and disruption among residents on selected physiological and cognitive measures. METHODS: Thirty-three medical and surgical residents were evaluated twice - at baseline and after a 26-hour shift. Eighteen young attending physicians who did not engage in nightshift schedules served as controls and were evaluated once. Measures included morning cortisol and high-sensitivity C-reactive protein (hs-CRP), computerised tests of attention and behaviour, the Behaviour Rating Inventory of Executive Function, a risk-taking questionnaire and the Pittsburgh Sleep Quality Index. RESULTS: Residents, but not attendings, reported chronic sleep disruption and deprivation. Residents at baseline exhibited reduced morning cortisol levels and elevated hs-CRP levels, compared to attendings. Residents at baseline had impaired global executive function compared to attendings. A nightshift with acute sleep deprivation further reduced residents' executive function. Residents at baseline and after a nightshift demonstrated increased impulsivity and slower processing time than attendings. Residents and attendings did not differ in risk-taking tendencies which were assessed in a separate cohort. CONCLUSIONS: In a real-life setting, resident physicians exhibit increased low-grade systemic inflammation (hs-CRP) and impaired HPA-axis function. Their chronic sleep curtailment is associated with greater impulsivity, slower cognitive processing, and impaired executive function. Future research is warranted to understand how improving working schedule by increasing sleep duration may minimise the short-term and potential long-term risks to physicians in training.


Assuntos
Internato e Residência , Privação do Sono , Biomarcadores , Cognição , Humanos , Sono , Tolerância ao Trabalho Programado
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