RESUMO
We report the case of a preterm of 27 weeks of gestation who developed posthemorrhagic ventricular dilatation associated to a complete thrombosis of the superior sagittal sinus, for its peculiar interest in clarifying the physiology of the cerebrospinal fluid (CSF) dynamics. The exact CSF volume that must be removed to improve cerebral hemodynamics and outcomes in infants with posthemorrhagic ventricular dilatation is unknown. According to Volpe's studies, a volume of 10 to 15 mL/kg/die of body weight is commonly chosen. The subject we report needed an excessive CSF drainage (up to 32 mL/kg/d), in presence of a functioning external ventricular drain. We review the literature on the topic, and we postulate that the superior sagittal sinus may play an active role in the CSF dynamics of the immature brain (as it happens for the adult brain).
Assuntos
Hidrocefalia , Recém-Nascido Prematuro , Lactente , Adulto , Recém-Nascido , Humanos , Seio Sagital Superior/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Hemodinâmica , Vazamento de Líquido Cefalorraquidiano/complicações , Hemorragia CerebralRESUMO
AIM: To determine whether isolated low-grade germinal matrix-intraventricular haemorrhages (LG-GMH-IVH) and low-grade punctate cerebellar haemorrhages (LG-CBH) contribute to the neurodevelopment of infants born preterm with very low birthweight (VLBW). METHOD: A prospective observational cohort study was conducted on infants born with VLBW hospitalized from January 2012 to July 2017 who had undergone serial cranial ultrasounds since birth and magnetic resonance susceptibility-weighted imaging of the brain at term-corrected age. Only those with VLBW carrying isolated LG-GMH-IVH (grades 1 or 2) or isolated LG-CBH (punctate cerebellar haemorrhages ≤4 mm in diameter) or absence of lesions (no-lesion) were enrolled and followed up to 3 years. The Griffiths Mental Development Scales, Extended and Revised version (GMDS-ER), were used to assess neurodevelopment, considering unsatisfactory scores less than 85. Behaviour, according to the criteria of the International Classification of Diseases, 10th Revision, and rehabilitation data were noted. RESULTS: Two-hundred and forty infants with VLBW were enrolled: 34 with LG-GMH-IVH, 17 with LG-CBH, and 189 as no-lesion. The LG-GMH-IVH and LG-CBH groups scored worse than the no-lesion group on all GMDS-ER scores for 1 year, 2 years, and 3 years. The LG-CBH group scored lower than the LG-GMH-IVH group for total GMDS-ER scores at 1 year and 2 years but not at 3 years. At 3 years, compared with the LG-CBH group, those with LG-GMH-IVH received less and later physical therapy, with more frequent attention problems. The odds ratio for unsatisfactory GMDS-ER scores corrected for gestational age was 5.75 for LG-CBH (95% confidence interval 1.92-17.25; p = 0.002) and 2.67 for LG-GMH-IVH (95% confidence interval 1.16-6.13; p = 0.02). INTERPRETATION: Low-grade haemorrhages affect the neurodevelopment of very-low-birthweight infants. Early rehabilitation might have contributed to their development.
RESUMO
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention on SLC4A10, DPP4, and KCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, joint laxity, and dysmorphic features. Only patient 2 showed profound deafness and also carried a heterozygous mutation of the GJB2 gene responsible for autosomal recessive deafness 1A (DFNB1A: OMIM 220290). Could the disruption of a gene present in the 2q24.2q24.3 deleted region be responsible for her profound hearing loss?
Assuntos
Surdez , Deficiência Intelectual , Deleção Cromossômica , Surdez/genética , Dipeptidil Peptidase 4/genética , Feminino , Humanos , Deficiência Intelectual/genética , Helicase IFIH1 Induzida por Interferon/genética , Hipotonia Muscular/genéticaRESUMO
PURPOSE: To explore the relationships between clinical-radiological features and surgical outcomes in subjects with interhemispheric cysts (IHC) and corpus callosum anomalies. METHODS: We reviewed the clinico-radiological and neurosurgical data of 38 patients surgically treated with endoscopic fenestration, shunting, or combined approaches from 2000 to 2018 (24 males, median age 9 years). Pre- and postoperative changes in IHC volume were calculated. Outcome assessment was based on clinico-radiological data. Group comparisons were performed using χ2, Fisher exact, Mann-Whitney U, and Kruskal-Wallis tests. RESULTS: Median age at first surgery was 4 months (mean follow-up 8.3 years). Eighteen individuals (47.3%) required > 1 intervention due to IHC regrowth and/or shunt malfunction. Larger preoperative IHC volume (P = .008) and younger age at surgery (P = .016) were associated with cyst regrowth. At last follow-up, mean cystic volume was 307.8 cm3, with IHC volume reduction > 66% in 19/38 (50%) subjects. The neurological outcome was good in 14/38 subjects (36.8%), fair in 18/38 (47.3%), and poor in 6/38 (15.7%). There were no differences in the postoperative cyst volume with respect to either the type of first surgery or overall surgery type. Higher absolute postoperative IHC reduction was observed in subjects who underwent both IHC fenestration and shunting procedures (P < .0001). No differences in neurological outcome were found according to patient age at surgery or degree of IHC reduction. CONCLUSION: Endoscopic fenestration and shunting approaches are both effective but often require multiple procedures especially in younger patients. Larger IHC are more frequently complicated by cyst regrowth after surgery.
Assuntos
Corpo Caloso , Cistos , Criança , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/cirurgia , Cistos/diagnóstico por imagem , Cistos/cirurgia , Endoscopia/métodos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene disorders, which complicate the understanding of genotype-phenotype correlations. Chromosome band 3p26.3 contains 3 genes encoding neuronal cell adhesion molecules: CHL1, CNTN6, and CNTN4. We describe 2 boys aged 8 years and 11 years mainly affected by intellectual disability and autism spectrum disorder, who harbor a paternally inherited 3p26.3 microdeletion and a 3p26.3 microduplication, respectively. Both anomalies involved only the CNTN6 gene, which encodes contactin 6, a member of the contactin family (MIM 607220). Contactins show pronounced brain expression and function. Interestingly, phenotypes in reciprocal microdeletions and microduplications of CNTN6 are very similar. In conclusion, our data, added to those reported in the literature, are particularly significant for understanding the pathogenic effect of single gene dosage alterations. As for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counselling because of an evident variable penetrance.
Assuntos
Transtorno do Espectro Autista/genética , Contactinas/genética , Variações do Número de Cópias de DNA , Deficiência Intelectual/genética , Criança , Deleção Cromossômica , Duplicação Cromossômica , Cromossomos Humanos Par 3 , Humanos , Cariotipagem , Masculino , FenótipoRESUMO
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain development. In particular, ULK4 encodes serine/threonine kinases that are critical for the development and function of the nervous system, while BRWD3 plays a crucial role in ubiquitination, as part of the ubiquitin/proteasome system. We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of â¼145 kb at 3p22.1, disrupting the ULK4 gene, and a maternally inherited microduplication of â¼117 kb at Xq21.1 including only the BRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype of our patients and the function of the genes involved in these microrearrangements.
RESUMO
OBJECTIVES: To evaluate white matter (WM) microstructural changes in preterm neonates (PN) with mild germinal matrix-intraventricular haemorrhage (mGMH-IVH) (grades I and II) and no other associated MRI abnormalities, and correlate them with gestational age (GA) and neurodevelopmental outcome. METHODS: Tract-based spatial-statistics (TBSS) was performed on DTI of 103 patients studied at term-equivalent age, to compare diffusional parameters (fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), axial diffusivity (AD)) between mGMH-IVH neonates (24/103) and controls matched by GA at birth and sex. The relationship between DTI abnormalities, GA and neurodevelopmental outcome assessed with Griffiths' Developmental Scale-Revised:0-2 was explored using TBSS and Spearman-correlation analysis (p < .05). RESULTS: Affected neonates had lower FA, higher RD and MD of the corpus callosum, limbic pathways and cerebellar tracts. Extremely preterm neonates (GA < 29 weeks) presented more severe microstructural impairment (higher RD and MD) in periventricular regions. Neonates of GA ≥ 29 weeks had milder WM alterations (lower FA), also in subcortical WM. DTI abnormalities were associated with poorer locomotor, eye-hand coordination and performance outcomes at 24 months. CONCLUSIONS: WM microstructural changes occur in PN with mGMH-IVH with a GA-dependent selective vulnerability of WM regions, and correlate with adverse neurodevelopmental outcome at 24 months. KEY POINTS: ⢠DTI-TBSS analysis identifies WM microstructural changes in preterm neonates with mGMH-IVH. ⢠Extremely preterm neonates with mGMH-IVH presented more severe impairment of WM microstructure. ⢠Extremely preterm neonates with mGMH-IVH presented microstructural impairment of periventricular WM. ⢠mGMH-IVH affects subcortical WM in preterm neonates with gestational age ≥ 29 weeks. ⢠WM microstructural alterations are related to neurodevelopmental impairments at 24 months.
Assuntos
Hemorragia Cerebral/diagnóstico por imagem , Imagem de Tensor de Difusão/métodos , Doenças do Prematuro/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Anisotropia , Cerebelo/diagnóstico por imagem , Desenvolvimento Infantil , Corpo Caloso/diagnóstico por imagem , Feminino , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Imageamento por Ressonância Magnética , MasculinoRESUMO
BACKGROUND: Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations of ACVR1/ALK2 causing progressive heterotopic endochondral ossifications. Evidence of central nervous system involvement has emerged only recently. METHODS: We performed an observational cross-sectional brain MRI study in 13 patients (8 females, mean age 20â years), examining the relationship of clinical and neuroradiological findings. RESULTS: All patients presented small asymptomatic lesions similar to hamartomas at the level of the dorsal medulla and ventral pons, associated with minor brainstem dysmorphisms and abnormal origin of the vestibulocochlear and facial nerves. The size of the brainstem lesions did not correlate with patient's age (p=0.061), age at first flare-up (p=0.733), severity of disability (p=0.194), history of head trauma (p=0.415) or hearing loss (p=0.237). The radiologic features and the absence of neurological symptoms were consistent with a benign process. Variable signal abnormalities and/or calcifications of the dentate nuclei were noted in all patients, while basal ganglia abnormalities were present in nine subjects. Brain calcifications positively correlated with patient's age (p<0.001) and severity of disability (p=0.002). CONCLUSIONS: Our data support the hypothesis that the effects of mutation of the ACVR1/ALK2 gene are extended to the central nervous system. Brainstem hamartomatous lesions and dysmorphisms, variably associated with dentate nucleus and basal ganglia signal abnormalities and/or calcifications, may represent useful disease hallmarks.
Assuntos
Receptores de Ativinas Tipo I/genética , Sistema Nervoso Central/patologia , Mutação de Sentido Incorreto , Miosite Ossificante/patologia , Adolescente , Adulto , Sistema Nervoso Central/metabolismo , Criança , Estudos Transversais , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Miosite Ossificante/genética , Miosite Ossificante/metabolismo , Adulto JovemRESUMO
OBJECTIVE: This study aims to describe the impact of twin birth, chorionicity, intertwin birth weight (BW) discordance and birth order on neonatal outcomes. STUDY DESIGN: We performed a hospital-based retrospective study on 2,170 twins (6.4% of all live births) and 2,217 singletons inborn 2007 to 2011. Data on neonatal characteristics, morbidities, and mortality were collected and compared. Univariate and multiple (adjusted for gestational age [GA] and gender) linear random intercept regression models were used. RESULTS: Overall, 62.3% of twins were born premature. At multiple regression, twins were similar to singletons for neonatal morbidities, but they were more likely to have lower BW and to be born by cesarean delivery. Monochorionic twins had lower GA and BW compared with dichorionic ones and were more likely to develop respiratory distress syndrome (odds ratio [OR], 1.7), hypoglycemia (OR, 3.3), need for transfusion, (OR, 3.4) but not brain abnormalities. Moderate and severe BW discordance were associated with longer length of stay and increased risk for morbidities but not for death. Birth order had no effects. CONCLUSION: Prematurity was the most common outcome in twins and accounted for the apparently increased risk in morbidities. Monochorionicity was confirmed as risk factor for lower GA and neonatal morbidities. BW discordance may play a role in developing neonatal complications and needs to be further investigated.
Assuntos
Cesárea/estatística & dados numéricos , Córion/diagnóstico por imagem , Hipoglicemia/epidemiologia , Lactente Extremamente Prematuro , Recém-Nascido de Baixo Peso , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Adulto , Peso ao Nascer , Feminino , Idade Gestacional , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Itália , Modelos Logísticos , Masculino , Razão de Chances , Gravidez , Gravidez de Gêmeos , Estudos Retrospectivos , Ultrassonografia Pré-NatalRESUMO
Extremely preterm babies are at major risk for adverse neurodevelopmental outcome, being the gestational age (GA) the main determinant for a good-quality survival. Aim of this retrospective study was to investigate the neurodevelopmental outcome in a population of extremely preterm babies admitted to a single neonatal tertiary care unit over an 8-year period. All babies born between 23+0 and 25+6 weeks of GA from January 2003 until December 2010 were retrospectively enrolled. Perinatal and neonatal variables were recorded. Motor and cognitive development was assessed using the neurofunctional scale (NFS) and the Griffith's scales at 2 years. Fifty-five out of 122 infants survived to discharge. Survival rates doubled for each additional gestational week from 23 to 25: 16%, 38% and 74% at 23, 24 and 25 weeks GA respectively. Forty-six infants were evaluated at 2 years. A poor cognitive and motor outcome was observed in all babies born at 23 weeks. Griffith's general quotient (GQ) was ≥76 in 62% and ≥88 in 33% of babies born between 24 and 25 weeks. No severe motor disabilities were found in 81% of babies born between 24 and 25 weeks. Preterm premature rupture of membranes, absence of prenatal steroids, intrauterine growth restriction, male, lower GA and major brain abnormalities at magnetic resonance imaging (MRI) were significantly associated with worse NFS and lower mean GQ at 2 years of age. GA, gender and abnormal MRI findings remained significantly associated with impaired NFS at the multivariate analysis. Survival rates and neurodevelopmental outcome improved with each week of GA. These results are relevant for clinicians counselling families facing an unavoidable extremely preterm birth.
Assuntos
Desenvolvimento Infantil/fisiologia , Cognição/fisiologia , Deficiências do Desenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Pré-Escolar , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Lactente Extremamente Prematuro , Recém-Nascido , Itália/epidemiologia , Masculino , Transtornos Motores/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida , Centros de Atenção TerciáriaRESUMO
Extra-uterine growth restriction (EUGR) is a common complication and a known risk factor for impaired development in very-low-birth-weight (VLBW) neonates. We report a population of 288 patients with no or with low-grade MRI lesions scanned at a term equivalent age (TEA) born between 2012 and 2018. Griffiths Mental Development Scale II (GMDS II) at 2 and 3 years, preterm complications and weight growth were retrospectively analyzed. EUGR was defined for weight z-score Ë 10 percentile at TEA, 6 and 12 months of correct age or as z-score decreased by 1-point standard deviation (SDS) from birth to TEA and from TEA to 6 months. Multivariate analysis showed that a higher weight z-score at 6 months is protective for the global developmental quotient (DQ) at 2 years (OR 0.74; CI 95% 0.59-0.93; p = 0.01). EUGR at 6 months was associated with worse locomotor, personal/social, language and performance DQ at 2 years and worse language and practical reasoning DQ at 3 years. In conclusion, a worse weight z-score at 6 months of age seems to be an independent risk factor for significantly reduced GMDS in many areas. These results suggest that we should invest more into post-discharge nutrition, optimizing family nutritional education.
Assuntos
Assistência ao Convalescente , Recém-Nascido Prematuro , Recém-Nascido , Humanos , Lactente , Estudos Retrospectivos , Alta do Paciente , Recém-Nascido de muito Baixo Peso , Peso ao Nascer , Encéfalo/diagnóstico por imagemRESUMO
Besides recent advances in neonatal care, preterm newborns still develop sex-biased behavioral alterations. Preterms fail to receive placental insulin-like growth factor-1 (IGF-1), a major fetal growth hormone in utero, and low IGF-1 serum levels correlate with preterm poor neurodevelopmental outcomes. Here, we mimicked IGF-1 deficiency of preterm newborns in mice by perinatal administration of an IGF-1 receptor antagonist. This resulted in sex-biased brain microstructural, functional, and behavioral alterations, resembling those of ex-preterm children, which we characterized performing parallel mouse/human behavioral tests. Pharmacological enhancement of GABAergic tonic inhibition by the U.S. Food and Drug Administration-approved drug ganaxolone rescued functional/behavioral alterations in mice. Establishing an unprecedented mouse model of prematurity, our work dissects the mechanisms at the core of abnormal behaviors and identifies a readily translatable therapeutic strategy for preterm brain disorders.
Assuntos
Encefalopatias , Fator de Crescimento Insulin-Like I , Estados Unidos , Criança , Humanos , Recém-Nascido , Gravidez , Feminino , Animais , Camundongos , Receptor IGF Tipo 1 , Placenta , Recém-Nascido Prematuro , Encefalopatias/tratamento farmacológicoRESUMO
Importance: There are suggestions that school pressure may be stressful and a factor in child and adolescent mental health disturbances, but data about this association are scarce and inconclusive. Objective: To assess whether varying degrees of school interruption were associated with changes in emergency department (ED) psychiatric visits of children and adolescents before and after the COVID-19 outbreak. Design, Setting, and Participants: A cross-sectional observational study was conducted at 9 urban university hospitals in Italy. All ED visits from January 1, 2018, to December 31, 2021, for psychiatric reasons of patients younger than 18 years were examined for demographic characteristics and type of psychopathologic factors. Data analysis was conducted from July 1 to August 31, 2023. Exposure: The disruption in the usual succession of school and holiday periods brought on by the COVID-19 pandemic at different times and with various degrees of intensity. Main Outcomes and Measures: Total number of pediatric ED visits, psychiatric ED visits, and psychiatric ED visits categorized by specific reasons (eg, psychomotor agitation, suicide ideation [SI] or suicide attempt [SA], and eating disorders) on a weekly basis. Results: A total of 13â¯014 psychiatric ED visits (1.3% of all pediatric ED visits) were recorded (63.2% females; mean [SD] age, 13.8 [3.8] years). The number of ED psychiatric visits increased over time (incidence rate ratio [IRR], 1.19; 95% CI, 1.16-1.22 for each year). Significant increases in ED visits were observed for eating disorders (294.8%), SI (297.8%), and SA (249.1%). School opening, but not social lockdown restriction, was associated with an increase in the number of ED psychiatric visits (IRR, 1.29; 95% CI, 1.23-1.34), which was evident for females and for SI with SA. Socioeconomic status was associated with an increase in psychiatric visits for males (IRR, 1.12; 95% CI, 1.04-1.20) but not females (IRR, 1.04; 95% CI, 0.98-1.10). Conclusions and Relevance: In this study, school opening was associated with an increased incidence of acute psychiatric emergencies among children and adolescents, suggesting that school can be a substantial source of stress with acute mental health implications.
Assuntos
COVID-19 , Serviço Hospitalar de Emergência , Instituições Acadêmicas , Humanos , COVID-19/epidemiologia , COVID-19/psicologia , Feminino , Masculino , Criança , Adolescente , Estudos Transversais , Itália/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Saúde Mental/estatística & dados numéricos , Transtornos Mentais/epidemiologia , SARS-CoV-2 , Pandemias , Ideação SuicidaRESUMO
Sleep changes significantly throughout the human lifespan. Physiological modifications in sleep regulation, in common with many mammals (especially in the circadian rhythms), predispose adolescents to sleep loss until early adulthood. Adolescents are one-sixth of all human beings and are at high risk for mental diseases (particularly mood disorders) and self-injury. This has been attributed to the incredible number of changes occurring in a limited time window that encompasses rapid biological and psychosocial modifications, which predispose teens to at-risk behaviors. Adolescents' sleep patterns have been investigated as a biunivocal cause for potential damaging conditions, in which insufficient sleep may be both a cause and a consequence of mental health problems. The recent COVID-19 pandemic in particular has made a detrimental contribution to many adolescents' mental health and sleep quality. In this review, we aim to summarize the knowledge in the field and to explore implications for adolescents' (and future adults') mental and physical health, as well as to outline potential strategies of prevention.
RESUMO
OBJECTIVE: To compare psychiatric emergencies and self-harm at emergency departments (EDs) 1 year into the pandemic, to early pandemic and pre-pandemic, and to examine the changes in the characteristics of self-harm presentations. METHOD: This retrospective cohort study expanded on the Pandemic-Related Emergency Psychiatric Presentations (PREP-kids) study. Routine record data in March to April of 2019, 2020, and 2021 from 62 EDs in 25 countries were included. ED presentations made by children and adolescents for any mental health reasons were analyzed. RESULTS: Altogether, 8,174 psychiatric presentations were recorded (63.5% female; mean [SD] age, 14.3 [2.6] years), 3,742 of which were self-harm presentations. Rate of psychiatric ED presentations in March to April 2021 was twice as high as in March to April 2020 (incidence rate ratio [IRR], 1.93; 95% CI, 1.60-2.33), and 50% higher than in March to April 2019 (IRR, 1.51; 95% CI, 1.25-1.81). Rate of self-harm presentations doubled between March to April 2020 and March to April 2021 (IRR, 1.98; 95% CI, 1.68-2.34), and was overall 1.7 times higher than in March to April 2019 (IRR, 1.70; 95% CI, 1.44-2.00). Comparing self-harm characteristics in March to April 2021 with March to April 2019, self-harm contributed to a higher proportion of all psychiatric presentations (odds ratio [OR], 1.30; 95% CI, 1.05-1.62), whereas female representation in self-harm presentations doubled (OR, 1.98; 95% CI, 1.45-2.72) and follow-up appointments were offered 4 times as often (OR, 4.46; 95% CI, 2.32-8.58). CONCLUSION: Increased pediatric ED visits for both self-harm and psychiatric reasons were observed, suggesting potential deterioration in child mental health. Self-harm in girls possibly increased and needs to be prioritized. Clinical services should continue using follow-up appointments to support discharge from EDs. DIVERSITY & INCLUSION STATEMENT: One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented racial and/or ethnic groups in science. We actively worked to promote inclusion of historically underrepresented racial and/or ethnic groups in science in our author group. While citing references scientifically relevant for this work, we also actively worked to promote inclusion of historically underrepresented racial and/or ethnic groups in science in our reference list. The author list of this paper includes contributors from the location and/or community where the research was conducted who participated in the data collection, design, analysis, and/or interpretation of the work.
Assuntos
COVID-19 , Comportamento Autodestrutivo , Criança , Humanos , Feminino , Adolescente , Masculino , Pandemias , Estudos Retrospectivos , COVID-19/epidemiologia , Comportamento Autodestrutivo/epidemiologia , Comportamento Autodestrutivo/psicologia , Serviço Hospitalar de EmergênciaRESUMO
Background: We investigated the COVID19-related psychological impact on healthcare workers in Italy and in Italian-speaking regions of Switzerland, three weeks after its outbreak. All professional groups of public hospitals in Italy and Switzerland were asked to complete a 38 questions online survey investigating demographic, marital and working status, presence of stress symptoms and need for psychological support. Results: Within 38 h a total of 3,038 responses were collected. The subgroup analysis identified specific categories at risk according to age, type of work and region of origin. Critical care workers, in particular females, reported an increased number of working hours, decline in confidence in the future, presence of stress symptoms and need for psychological support. Respondents reporting stress symptoms and those with children declared a higher need for psychological support. Conclusions: The large number of participants in such a short time indicates for a high interest on topic among health-care workers. The COVID19 outbreak has been experienced as a repeated trauma for many health-care professionals, especially among female nurses' categories. Early evidence of the need of implementating short and long-term measures to mitigate impact of the emotional burden of COVID-19 pandemic are still relevant.
Assuntos
COVID-19 , Teorema de Bayes , COVID-19/epidemiologia , Criança , Feminino , Pessoal de Saúde , Humanos , Pandemias , SARS-CoV-2 , Suíça/epidemiologiaRESUMO
BACKGROUND: COVID-19 is having a significant impact on long term children' and adolescents' psychological health. We aimed to evaluate the direct early psychological and behavioural signs related to the COVID-19 pandemic outbreak and related confinement on children and adolescents. METHODS: Children and adolescents' drawings were collected for a limited time window (16th March-10th April 2020) and analyzed. Their parents were asked in the following month to answer a qualitative e-survey on somatic complaints and behavioral changes of the participating children/adolescents. RESULTS: Ninety-eight drawings by children/adolescents (mean age 7.01±2.83 years) were analysed. Analyses of the 98 drawings reported signs of trauma in all (of them, 60.2% with moderate-to high levels). Children aged 3-5 years were more impacted, followed by preadolescents/adolescents aged 11-17 years. Parents reported somatic complaints in the 71.1% of their children/adolescents: the most frequent were increased appetite (35.6%), abdominal pain (20.0%) and headache (20.0%). Behavioral changes were observed in 77.8% of subjects: increased appetite (35.6%), abdominal pain (20.0%) and headache (20.0%) were more represented. CONCLUSIONS: Early psychological distress related to COVID-19 pandemic was observed both in children and in adolescents by the analysis of drawings and confirmed by their parents. Implementation of mental health-care services for preventing future psychopathological problems is mandatory.
RESUMO
BACKGROUND: Coronavirus disease 2019 (COVID-19) related confinement severely impacted people wellbeing. Many studies focused on general population, although it is reasonable to expect that patients with neurodevelopmental disorders might have been at higher risk. Children/adolescents with Attention Deficit/Hyperactivity Disorder (ADHD) might be potentially more vulnerable, due to their intolerance to forced restrictions that limit stimulating experiences, to obligation to follow instructions and to acceptation of imposed rules We aimed to compare stress-related behavioral changes of the first COVD-19 related confinement among 6-18 years old ADHD and typically developing subjects. METHODS: Two parent-proxy online surveys have been employed, shared via social media. Symptoms of acute stress related to the pandemic and a question about family members/households' COVID-19 positivity have been listed in 8 yes/no items. Chi-squared tests were applied. RESULTS: Final sample consisted of 1078 typically developing subjects and 979 ADHD. Exaggerated startle response, difficulties in waking-up, angry mood as well as COVID-19 related fears were more prevalent among ADHD vs. typically developing subjects. typically developing subjects showed higher prevalence of research for information about COVID-19 and worries about death. CONCLUSIONS: In conclusion, the COVID-19 experience significantly impacted children and adolescents with ADHD to a great extent, similarly to typically developing subjects. ADHD showed more anxious-phobic responses, while typically developing subjects demonstrate more depressive attitudes. Differences in stress symptoms profiles between ADHD and T typically developing subjects warrant to develop distinct strategies of therapeutic interviews.
RESUMO
Mutations in AarF domain-containing kinase 3 (ADCK3) are responsible for the most frequent form of hereditary coenzyme Q10 (CoQ10) deficiency (Q10 deficiency-4), which is mainly associated with autosomal recessive cerebellar ataxia type 2 (ARCA2). Clinical presentation is characterized by a variable degree of cerebellar atrophy and a broad spectrum of associated symptoms, including muscular involvement, movement disorders, neurosensory loss, cognitive impairment, psychiatric symptoms and epilepsy. In this report, we describe, for the first time, a case of photoparoxysmal response in a female patient with a mutation in ADCK3. Disease onset occurred in early childhood with gait ataxia, and mild-to-moderate degeneration. Seizures appeared at eight years and six months, occurring only during sleep. Photoparoxysmal response was observed at 14 years, almost concomitant with the genetic diagnosis (c.901C>T;c.589-3C>G) and the start of CoQ10 oral supplementation. A year later, disease progression slowed down, and photosensitivity was attenuated. A review of the literature is provided focusing on epileptic features of ADCK3-related disease as well as the physiopathology of photoparoxysmal response and supposed cerebellar involvement in photosensitivity. Moreover, the potential role of CoQ10 oral supplementation is discussed. Prospective studies on larger populations are needed to further understand these data.
Assuntos
Ataxia Cerebelar , Epilepsia Reflexa , Proteínas Mitocondriais/genética , Ubiquinona/análogos & derivados , Adolescente , Ataxia Cerebelar/complicações , Ataxia Cerebelar/tratamento farmacológico , Ataxia Cerebelar/genética , Ataxia Cerebelar/fisiopatologia , Epilepsia Reflexa/tratamento farmacológico , Epilepsia Reflexa/etiologia , Epilepsia Reflexa/genética , Epilepsia Reflexa/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Ubiquinona/farmacologiaRESUMO
Interstitial 6p25.1p24.3 microdeletions are rare events and a clear karyotype/phenotype correlation has not yet been determined. In this study, we present the clinical and molecular description of a child with a de novo 6p25.1p24.3 microdeletion, characterized by array-CGH, associated with mild intellectual disability, facial dysmorphisms, hypopigmentation of the skin of the abdomen, heart defects, mild pontine hypoplasia and hypotonia. This deleted region contains 14 OMIM genes (NRN1, F13A1, RREB1, SSR1, RIOK1, DSP, BMP6, TXNDC5, BLOC1S5, EEF1E1, SLC35B3 and HULC). To the best of our knowledge until now only six cases have been reported presenting an interstitial microdeletion, but a unique case carries a deleted region containing the same genes of our patient. We compared clinical features and genetic data with that of the previously reported patient. We also analysed the gene content of the deleted region to investigate the possible role of specific genes in the clinical phenotype of our patient.