Emotion dysregulation and depressive symptoms mediate the association between inhibitory control difficulties and aggressive behaviour in children with ADHD.

Background/objectives: Impulsive aggressive behaviour, although not a core symptom, is often part of the clinical presentation of attention-deficit/hyperactivity disorder (ADHD). Recently, impulsive aggression has been attributed to emotion dysregulation, which is currently conceptualised as a transdiagnostic factor and seems to contribute to the co-occurrence of other problems in ADHD. Thus, this study investigated the presence of impulsive aggressive behaviour and explored whether emotion dysregulation mediates the relationship between inhibitory control difficulties and aggressive behaviour in children with ADHD. Because ADHD may act as a risk factor for the development of other conditions, such as internalising problems, we aimed to understand whether depressive symptoms contribute to this relationship. Methods: Seventy-two children were recruited from a hospital and the community, 38 of whom had ADHD and 34 were typically developing (TD). Parents completed the Child Behaviour Checklist, the Behaviour Rating Inventory of Executive Function, and the Emotion Regulation Checklist. Simple mediation and serial mediation models were performed to test our hypotheses. Results: Aggressive behaviour was significantly higher in ADHD children compared to TD children. Emotion dysregulation fully mediated the relationship between inhibitory control difficulties and aggressive behaviour in ADHD children. Adding depressive symptoms to the model increased the explained variance in aggressive behaviour. Conclusion: The main result of our study supports the role of emotion dysregulation and depressive symptoms in mediating the relationship between inhibitory control difficulties and impulsive aggressive behaviour in children with ADHD. This highlights that aggressive behaviour is, in part, a result of the inability of the child to appropriately regulate their emotions. Future interventions may be tailored to improve emotion regulation skills to address aggressive behaviour.

Irony Understanding in Children With Attention-Deficit/Hyperactivity Disorder: A Comparative Analysis.

INTRODUCTION: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity that can significantly impact a child's daily life and academic performance. Some studies have noted challenges in social cognition among children with ADHD, specifically in aspects like emotion perception and processing, empathy, Theory of Mind, and pragmatics. One of the lesser-explored aspects of ADHD is its potential impact on higher-level language skills, such as irony understanding. Our goal in this study was to compare irony comprehension in two groups: schoolchildren with normal development and schoolchildren with ADHD. METHODS: We performed a comparative cross-sectional study on a total of 35 children aged between 6 and 12 years: 17 with ADHD and 18 not neurodevelopmentally impaired. Irony comprehension was evaluated using an assessment method validated for the Portuguese population: Turtle on the Island - Battery of Assessment of Executive Functions in Children (TI-BAFEC). We also applied the EACE (Emotional Awareness and Coping in Children) scale. It is the Portuguese adaptation of the Assessment of Children's Emotion Skills and assesses children's emotional knowledge. RESULTS: We obtained two comparable groups concerning sociodemographic data. The analysis of the data, using the Mann-Whitney U Test, showed that in all parameters, the control group consistently exhibited superior performance compared to the ADHD group. However, only TI-BAFEC (p = 0.005) and emotional behavior (p = 0.007) showed a significant statistical variance between the two groups. CONCLUSION: This article shows that children with ADHD encounter challenges in grasping irony. However, the underlying cognitive processes contributing to these difficulties warrant further investigation.

[Neurodevelopmental Pediatrics in Portugal: Hospital Patient Volume, Resources and Needs - Changes After Ten Years]. / Pediatria do Neurodesenvolvimento em Portugal: Movimento Hospitalar Assistencial, Recursos e Necessidades ­ Evolução em Dez Anos.

INTRODUCTION: Neurodevelopmental disorders are, in modern societies, the most common chronic pediatric conditions. Many remain in adulthood. Organizing the national health care network to respond efficiently and effectively requires grounded knowledge of care needs. The Neurodevelopmental Pediatrics Society of the Portuguese Society of Pediatrics in order to know the current hospital care reality of Neurodevelopmental Pediatrics, carried out a national survey in 2007, repeating it ten years later. Material e Methods: In the 2016-2017 biennium, a survey of 45 hospital units was conducted on the patient volume of Neurodevelopmental clinics, the allocation of human resources, and the needs for professional reinforcement. RESULTS: We obtained a 100% response rate. The total number of Neurodevelopmental Pediatrics consultations rose from 38 238 (2007) to 99 815 (2017). The number of professionals has also increased: pediatricians increased from 82 to 156. A median of 101 children were awaiting first consultation, compared with 185 in 2007. DISCUSSION: In a decade, the patient volume almost tripled. The reinforcement of professionals, even though it was beneficial, did not increase accordingly; even so, the number of children on the waiting list for their first appointment has almost halved, reflecting the commitment of professionals. CONCLUSION: It is noteworthy that the overall improvement of the national response in the area of Neurodevelopmental Pediatrics is remarkable. However, the requested reinforcement of human resources from a multidisciplinary perspective should not be neglected in view of the continuous improvement in care delivery in an area of great chronicity and complexity.

Introdução: As perturbações do neurodesenvolvimento são, nas sociedades modernas, as patologias crónicas mais frequentes da idade pediátrica. Muitas permanecem na vida adulta. A organização da rede de cuidados de saúde nacional carece de conhecimento fundamentado das necessidades assistenciais para lhes responder de um modo eficaz, eficiente e efetivo. Com o objetivo de conhecer a realidade assistencial hospitalar atual da Pediatria do Neurodesenvolvimento, a Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria procedeu a um levantamento nacional em 2007, repetindo-o dez anos depois.Material e Métodos: No biénio 2016-2017 procedeu-se a um inquérito dirigido ao universo de 45 unidades hospitalares abrangendo o movimento assistencial das consultas de Pediatria do Neurodesenvolvimento, a alocação de recursos humanos, e as necessidades de reforço de profissionais.Resultados: Obteve-se 100% de respostas. O número total de consultas de Pediatria do Neurodesenvolvimento subiu de 38 238 (2007) para 99 815 (2017). O número de profissionais também aumentou: os pediatras passaram de 82 a 156. Uma mediana de 101 crianças aguardavam primeira consulta, contra 185 em 2007.Discussão: Numa década, o movimento assistencial quase triplicou. O reforço de profissionais, apesar de positivo, não teve o mesmo incremento; ainda assim, o número de crianças em lista de espera para primeira consulta reduziu-se quase para metade, o que reflete o comprometimento dos profissionais.Conclusão: É de salientar a melhoria global da resposta nacional na área da Pediatria do Neurodesenvolvimento. Contudo, o reforço dos recursos humanos numa perspectiva pluridisciplinar não deve ser negligenciado, tendo em vista a melhoria contínua da prestação de cuidados numa área de grande cronicidade e complexidade.

Telemedicina en pediatría del neurodesarrollo durante la pandemia de COVID-19: experiencia en un hospital terciario / Telemedicine in neurodevelopmental pediatrics during the COVID-19 pandemic: experience of a tertiary hospital

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Impacto de la COVID-19 en niños con trastorno del espectro autista / The impact of COVID-19 on children with autism spectrum disorder

INTRODUCCIÓN: Los niños con trastorno del espectro autista (TEA) a menudo experimentan el cambio de rutinas como un desafío importante. La necesidad de adaptación durante la pandemia por la COVID-19 puede haber causado problemas a estos niños. OBJETIVO: Conocer cómo vivieron los niños con TEA y sus familias el aislamiento social durante la cuarentena. Sujetos y métodos. Se realizó un estudio observacional, transversal y analítico. Se aplicó un cuestionario anónimo que incluía las características demográficas y clínicas de los niños, junto con el impacto que tuvo la pandemia en diferentes aspectos de la vida diaria de las familias. RESULTADOS: De los 99 cuestionarios obtenidos, 43 eran niños con TEA y 56 niños del grupo control. Los niños con TEA tuvieron predominantemente cambios en el comportamiento, a diferencia de los del grupo control. La mayoría de los niños con TEA tuvo un impacto negativo en el manejo de las emociones frente a los del grupo control, que expresaron un impacto mayoritariamente positivo/nulo. Los cuidadores puntuaron niveles de ansiedad más altos en ellos mismos que en sus hijos. Los niños con TEA y sus padres tenían niveles más altos de ansiedad que los controles. En el grupo con TEA, los niños que no mantuvieron las rutinas tuvieron niveles de ansiedad más altos. CONCLUSIÓN: Los resultados muestran un potencial impacto psicológico de la pandemia de la COVID-19 no sólo en los niños con trastornos del neurodesarrollo, sino también en sus cuidadores. Debe estarse preparado para la vigilancia de los trastornos mentales en las familias tras la pandemia de la COVID-19

INTRODUCTION. Children with autism spectrum disorder (ASD) often experience changing routines as a major challenge. For that reason, the need for adaptation during COVID-19 pandemic may have brought major problems to families with children with this pathology. AIM. To explore how children with ASD and their parents experienced the social isolation during COVID-19 outbreak period. SUBJECTS AND METHODS. We conducted an observational, cross-sectional and analytical study. We applied an anonymous questionnaire that included children’s demographic and clinical characteristics, along with the impact of the COVID-19 outbreak in different aspects of family’s daily life. RESULTS. Out of 99 questionnaires obtained, 43 were related to children with ASD and 56 to control group. Children with ASD predominantly had changes in behavior, while children from control group mostly found no changes. The majority of parents of ASD children reported a negative impact in emotion management against those in control group reporting mostly positive or no impact. Caregivers reported higher mean scores of anxiety levels in themselves than in their children. ASD children and their parents had higher levels of anxiety than healthy ones. In the group with ASD, children that did not maintain routines had higher mean levels of anxiety than children that maintained routines. CONCLUSION. Our results show a potential important psychological impact of the COVID-19 pandemic not only in children with neurodevelopmental disorders but in their caregivers as well. Physicians must be prepared for the post-pandemic surveillance of mental disorders among families

Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría / Array-CGH: importance in the study of developmental delays in pediatrics

INTRODUCCIÓN: El retraso general del desarrollo (RGD) constituye un trastorno intelectual y del comportamiento adaptativo que aparece en los niños menores de 5 años que no consiguen alcanzar los hitos del desarrollo normal. La discapacidad intelectual se caracteriza por la limitación en el funcionamiento intelectual y en el comportamiento adaptativo, surgida en la infancia. Entre las causas frecuentes y reconocibles del RGD y de la discapacidad intelectual se encuentran los desequilibrios cromosómicos. Los arrays de hibridación genómica comparada (aCGH) han contribuido a mejorar la tasa de detección de las anomalías genéticas y ya se consideran la prueba genética de elección para la discapacidad intelectual de origen desconocido. OBJETIVO: Analizar los resultados del estudio genético con aCGH motivado por un RGD o una discapacidad intelectual en pacientes pediátricos. PACIENTES Y MÉTODOS: Análisis retrospectivo de pacientes pediátricos sometidos a seguimiento ambulatorio que fueron objeto de un estudio genético con aCGH entre 2012 y 2017. RESULTADOS: El número de pacientes sometidos al estudio con aCGH ascendió a 215. Del total, el 64,2% fueron investigados por discapacidad intelectual, y el 35,8%, por RGD. El 23,3% presentó deleciones o duplicaciones en la aCGH; el 56%, por la discapacidad intelectual; y el 44%, por el RGD, y los cromosomas 16, 22, 2 y 1 fueron los implicados con más frecuencia. CONCLUSIÓN: El presente estudio demuestra la mayor prevalencia de ambos en el sexo masculino, en consonancia con otras publicaciones precedentes. La tasa de detección de las anomalías clasificadas como patógenas resultó superior a la notificada en otros estudios

INTRODUCTION: Global developmental delay (GDD) is an intellectual and adaptive impairment in infants under 5 years of age who fail to meet expected developmental milestones. Intellectual disability is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of GDD and intellectual disability are chromosomal imbalances. The array comparative genomic hybridization (aCGH) has contributed to improve the detection rate of genetic abnormalities and is considered the first-tier genetic test for unexplained intellectual disability. AIM: To analyze the results of a genetic study by aCGH due to GDD or intellectual disability in pediatric patients. PATIENTS AND METHODS: Retrospective analysis of pediatric patients followed in outpatient, which underwent a genetic study by aCGH, from 2012 to 2017. RESULTS: 215 patients were studied by aCGH. Of the total, 64.2% were investigated for intellectual disability and 35.8% for GDD. A 23.3% presented aCGH deletions or duplications, 56% for intellectual disability and 44% for GDD, with chromosomes 16, 22, 2 and 1 being the most implicated. CONCLUSION: Our study demonstrated a higher prevalence in males, according to previously published reports. The rate of detection abnormalities classified as pathogenic was higher than in other studies

Protocolo para la investigación etiológica de la parálisis cerebral / Protocol for the etiological investigation of cerebral palsy

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Chiari Malformation Type I in a Patient with a Novel NKX2-1 Mutation.

Chiari Malformation Type 1 is a congenital, condition characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. NKX2-1 gene encodes a transcription factor expressed during early development of thyroid, lung, and forebrain, and germline NKX2-1 mutations can lead to dysfunction in any of these three organs, resulting in brain-lung-thyroid syndrome. There have been few reports of structural brain anomalies in patients with an NKX2-1-related disorder. We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1-related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal.

[Self-perception in children with attention-deficit/hyperactivity disorder]. / Auto-conceito em crianças com hiperactividade e défice de atenção.

The Attention-Deficit/ Hyperactivity Disorder (ADHD) is a disorder reflected by significant deficits in multiple domains, interfering with the self-perception and self-esteem of children. However, international studies that assess the relationship between ADHD and self-perception have come to contradictory results, and, in Portugal, this is still a little investigated subject. The present work aims to assess the self-perception in different areas (scholastic competence, athletic competence, physical appearance, behaviour and social acceptance) in children with ADHD, comparing them with a control group. This study also tries to analyze whether the subtype of ADHD could interfere differently with the self-perception. We studied 43 children who had a clinical diagnosis of ADHD and 59 children without this diagnosis. Children with ADHD were divided into different subtypes in view of the revised Conners Scales (Portuguese version). The children completed the Self-Perception Profile for Children. From the analysis of averages comparison, it was found that the group of children with ADHD showed lower values in the different domains of self-perception, with a statistically significant difference in scholastic and behaviour self-perceptions. Regarding the different subtypes of ADHD, the results were not statistically significant, but indicated that children perceive themselves differently depending on the subtype. This discrepancy was most evident in scholastic competence where children predominantly inattentive considered themselves less able than the others. In this study, as in the international literature, children with ADHD have an scholastic and behavioural self-perception statistically inferior to other children of the same age, needing every possible support for a healthy emotional development.

SELDI-TOF biomarker signatures for cystic fibrosis, asthma and chronic obstructive pulmonary disease.

OBJECTIVES: The aim of this work was to establish protein profiles in serum and nasal epithelial cells of cystic fibrosis individuals in comparison with controls, asthma and chronic obstructive pulmonary disease patients for specific biomarker signatures identification. DESIGN AND METHODS: Protein extracts were analyzed by Surface Enhanced Laser Desorption/Ionization Time-Of-Flight Mass-Spectrometry (SELDI-TOF-MS). RESULTS: The mass spectra revealed a set of peaks with differential expression in serum and nasal cells among the different groups studied, resulting into peak signatures representative/specific of each pathology. Logistic regressions were applied to those peaks; sensitivity, specificity, Youden's indexes and area under the curve (AUC) of the respective receiver operating characteristic (ROC) curves were compared. DISCUSSION: Multivariate analysis demonstrated that combination of peaks has a better predictive value than the individual ones. These protein signatures may serve as diagnostic/prognostic markers for the studied diseases with common clinical features, or as follow-up assessment markers of therapeutic interventions.

Pos-infectious bronchiolitis obliterans in children.

Bronchiolitis obliterans (BO) is a rare disease in immunocompetent children that usually occurs after infection of the lower airways. While a diagnosis of BO was usually confirmed by lung biopsy, identification of prior lung lesion plus a typical clinical course and a suggestive chest X-ray and CT scan have replaced the need for more invasive procedures. The authors reviewed the clinical records of 10 BO patients, followed in the Outpatients Paediatric Pulmonology Unit from January 1997 to December 2002, to identify the most common aetiology, clinical and radiological profiles, treatment and course. All patients maintained cough and/or wheezing after the initial acute episode. 80% had failure to thrive at the time of the diagnosis, mean age 16 months. Viral pneumonia was the main initial event (5 adenovirus, 3 respiratory syncytial virus, 1 parainfluenza virus, 1 unknown). Lung biopsies were not performed as clinical and radiological presentations were typical of BO. The follow-up (mean 36 months) revealed clinical resolution in 3 children and persistent symptoms in 6. One patient had progressive respiratory failure and died. Prompt recognition of the diagnosis with supportive treatment that included oxygen therapy and an aggressive nutrition plan helped to improve the clinical state of the children.

Cystic Fibrosis--clinical features of a sample of Portuguese patients.

Even though there have been rapid advances in the comprehension of molecular determinants of Cystic Fibrosis, this disease continues to be one of the most common lethal recessive diseases in the Caucasian population worldwide. The reality of Portuguese patients is still greatly unknown, due to the lack of studies published in reference to our population. The objectives of this study were: clinical evaluation of a group of Portuguese patients with Cystic Fibrosis, with two identified mutations; comparing the clinical presentation of a group of homozygous patients for the F508del mutation with patients that are not homozygous for this mutation. A group of patients, followed in Pediatric Pneumology Consultations of S. João Hospital, were characterised in terms of phenotype and were classified according to criteria of severity. All of the patients in this group presented class I and/or II mutations, classically associated with a more severe phenotype. In conformity with the severe genotype, all patients presented a phenotype of pancreatic insufficiency but with greater variability of pulmonary manifestations. Significant variations were not found in terms of age at diagnosis, presenting forms and disease severity between F508del homozygous patients and the other patients. On the other hand, patients with the same genotype (homozygous F508del) presented different spectrums of clinical manifestations and phenotype severity. Just as much, or even more than the genotype characterisation, the time period of evolution of the disease and external factors, namely being subjected to infectious stimulus, interfere in the severity of the phenotype, at a certain moment in time.

[A child with pulmonary hypertension: from etiological study to therapeutic decisions]. / Uma criança com hipertensão pulmonar: da investigação etiológica à orientação terapêutica.

Pulmonary hypertension is a rare but devastating disease, with poor prognosis and high mortality. The disease may present as Primary Pulmonary Hypertension where no clear aetiology can be identified, or be related to a variety of underlying conditions. This is a rare disease in paediatric age. The authors present the clinical case of a 4 years old child, admitted in Paediatric Department of S. João Hospital for syncope episode. The diagnosis of pulmonary hypertension was made by echocardiogram. Ulterior studies revealed pulmonary disease (obliterans bronchiolitis). The treatment included a calcium channel blocker (diltiazem), an endothelin antagonist (bosentan) and supplemental oxygen. This is the first case of obliterans bronchiolitis diagnosed during etiological study for pulmonary hypertension, in our Pediatrics Department. In this case we could not determine the pulmonary disease precipitating event.

[Recurrent chylothorax -- a fifteen years long history]. / Quilotórax recorrente -- uma história com 15 anos.

The authors describe the clinical case of a 15 year-old adolescent with recurrent bilateral chylothorax leading to multiple hospitalizations. As in other cases described the diagnosis was made on the basis of classical clinical features and characteristic CT scan. Most cases of pulmonary lymphangiectasis, described in the literature, are lethal in the neonatal period. In this case the girl has a reasonable life quality, in spite of multiple hospitalizations. Lower limb lymphedema, facial anomalies (flat face, palpebral edema, tooth anomalies and small mouth) and mild development retardation allow us to consider our case as the first portuguese case of Hennekam Syndrome. Molecular studies will allow, in the future to explain most of the clinical manifestations and to include other patients in the same clinical entity.

Bony density in adolescents after surgical repair of tetralogy of fallot: a comparative study with healthy adolescents.

BACKGROUND: Adverse influences arising in fetal life or immediately after birth have a permanent effect on body structure, physiology and metabolism. Evidence is now accumulating that programming of bone growth might be an important contributor to the later risk of osteoporosis. Long-term morbidity and mortality associated with retralogy of Fallot is not completely known. The aim of the present study was to evaluate the state of the bones in adolescents after surgical repair of tetralogy of Fallot, so as to ascertain any possible repercussions of the disease on bone mineralization. MATERIAL AND METHODS: We studied 34 adolescents with repaired tetralogy of Fallot, between the ages of 11 and 18 years, to establish their nutritional status, in terms of height, weight, and skinfolds, their body composition using an anthropometric method, their sexual maturity according to Tanner, and their food-habits as based on 24-hour recall. Bone density was evaluated by lumbar dual-energy X-ray absorptiometry. We included 34 healthy eutrophic adolescents, matched for gender and age, as controls. RESULTS: No significant differences were observed between the patients and their controls concerning nutritional status, body composition, total energy intake and nutritional supply in macronutrients, calcium, phosphorus, magnesium and vitamin D. Bone mineral density, expressed in Z-score and g/cm2, was significantly higher in patients with tetralogy of Fallot (p < 0.01). The age at the time of the first surgical procedure, or at complete surgical repair, and the total number of surgical procedures, had no significant influence on nutritional status or bone mineralization. Gender, chronological age, sexual maturity and the index of body mass are the major determinants of bone density for both samples. Obese adolescents with repaired tetralogy of Fallot had a significantly higher bone density (p < 0.05) compared to undernourished or euthrophic patients. CONCLUSIONS: Being born with tetralogy of Fallot has no significant repercussion, by the stage of adolescence, on nutritional status, pubertal progression, and accretion of bone minerals subsequent to surgical repair. Nutritional status is the major influence on the accretion of bone mass.