RESUMO
Dravet syndrome, a developmental and epileptic encephalopathy, manifests with varying degrees of cognitive and communication impairment, postural and movement disorders (such as ataxia, coordination issues, and crouch gait) and behavioural challenges (including attention deficit/hyperactivity, oppositional/defiant behaviour, and autistic traits). Rehabilitation is a valuable tool for most patients, typically prescribed to address the most pressing issues. However, current practices often fall short in proactively preventing and treating known challenges associated with the syndrome, as indicated by the latest literature, at different life stages. Furthermore, there is a notable lack of evidence regarding treatment types and efficacy specific to people with Dravet Syndrome. Conducted in collaboration with one of the Italian Patient associations, this national survey provides a comprehensive view of the rehabilitation landscape in Dravet Syndrome, as perceived by caregivers. It outlines the types of treatments for 51 patients, based on age and relevant clinical features. The findings reveal a heterogenous rehabilitation approach, only partly tailored to the presence of specific comorbidities, and underline numerous unmet needs. Compared to the past there is indirect evidence that more patients are offered early rehabilitation. Nonetheless, while nowadays speech therapy and neuropsychomotor therapy are nearly universal for children up to the age of 10, some begin physiotherapy and psychotherapy thereafter, with a majority discontinuing treatments. Therefore, families of adolescent and adult patients often face a lack of comprehensive support, predominantly offered when epilepsy is more challenging to control affecting rehabilitation adherence and effectiveness. Finally, a negligible minority is offered treatments such as neurovisual training, augmentative and alternative communication, and occupational therapy. Many of these considerations could apply to other developmental and epileptic encephalopathy with lifelong disability. This survey calls for more data collection on this important topic for more efficient allocation of rehabilitation resources.
Assuntos
Epilepsias Mioclônicas , Humanos , Epilepsias Mioclônicas/reabilitação , Itália , Adolescente , Criança , Adulto , Feminino , Pré-Escolar , Masculino , Adulto Jovem , Lactente , Inquéritos e QuestionáriosRESUMO
Physical exercise is known to have beneficial effects on psychosocial well-being and cognitive performance. Children with cerebral palsy (CP) showed lower levels of physical activity (PA) than healthy children; this fact, in addition to the basic clinical condition, increased the sedentary habit with a psychological impact and motor impairment of these children. Furthermore, children and adolescents with CP are less committed to sports activities than typically developing children of the same age. The aim of the present narrative review was to increase the amount of knowledge regarding the effectiveness and importance of specific and individualized sports in children with CP. A comprehensive search of MED-LINE and EMBASE databases was performed, including specific search terms such as "cerebral palsy" combined with "sport", "physical activity", and the names of different sports. No publication date limits were set. We included studies with an age range of 0-18 years. The main results pointed out that most of the sports improved motor function, quality of life, and coordination in children and adolescents with CP. Physicians, therapists, and parents should become aware of the benefits of sports activities for this population of patients. Specific sports activities could be included as a usual indication in clinical practice in addition to rehabilitation treatment.
Assuntos
Paralisia Cerebral , Esportes , Humanos , Paralisia Cerebral/psicologia , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/reabilitação , Criança , Esportes/psicologia , Adolescente , Qualidade de Vida/psicologia , Pré-Escolar , Exercício Físico/psicologia , Exercício Físico/fisiologia , Masculino , Feminino , LactenteRESUMO
The aim of the study was to explore the clinical significance of school refusal behavior, its negative impact on psychological well-being of children and adolescents and its relationship with the most common psychopathological conditions during childhood and adolescence (e.g. neurodevelopmental disorders, psychiatric disorders). School refusal behavior refers to a distressing condition experienced by children and adolescents that compromise regular school attendance and determine negative consequences on mental health and adaptive functioning. A narrative review of the literature published between January 2019 and March 2023 was conducted. Ten studies (n = 10) were included from a literature search of the electronic databases PubMed, CINAHL, PsycInfo, MedLine, and Cochrane Library. The results indicate that school refusal is highly present in neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder due to the presence of behavioral problems and deficits in communication skills. As for psychiatric disorders, school refusal appears to be highly common in anxiety disorders, depressive disorders, and somatic symptoms. We also found that school refusal behavior may be associated with various emotional and behavioral conditions that act as risk factors. Especially, but are not limited to, it may be associated with a diminished self-concept, exposure to cyberbullying, specific affective profiles and excessive technology usage. Our results indicate that school refusal is a condition with many clinical facets. It can be attributed to both vulnerability factors, both temperamental and relational, and to various psychopathological conditions that differ significantly from each other, such as neurodevelopmental disorders and psychiatric disorders. Recognizing these aspects can improve the implementation of patient-tailored therapeutic interventions that are consequently more likely to produce effective outcomes. The therapeutic intervention should facilitate the recognition of cognitive biases regarding school as a threatening environment, while regulating negative emotions associated with school attendance. Additionally, therapeutic intervention programs linked to social skill training and problem-solving training, conducted directly within the school setting, can enhance children's abilities to cope with academic performance and social relationships, ultimately preventing school refusal.
Assuntos
Instituições Acadêmicas , Humanos , Criança , Adolescente , Transtornos Mentais/psicologia , Transtornos do Neurodesenvolvimento/psicologia , Comportamento do Adolescente/psicologia , Relevância ClínicaRESUMO
Background: Very early-onset schizophrenia (VEOS) is a form of schizophrenia that manifests before the age of 13 years and is characterized by the presence of positive, negative, and disorganized symptoms. The condition is exceptionally rare and, to date, limited studies have been conducted, resulting in incomplete information about its clinical features. Methods: The present study involves a systematic review of the existing literature regarding the clinical features and comorbidities of VEOS. Results: The first search retrieved 384 studies. Of these, 366 were removed following the application of exclusion criteria, resulting in 18 studies for the final set. Conclusion: The results highlight that VEOS shares similarities with early-onset and adult-onset schizophrenia but also exhibits distinct and recognizable characteristics, including a more severe clinical profile (particularly in females), increased visual hallucinations, and high comorbidities with neurodevelopmental disorders. These findings may support clinicians in formulating early diagnoses and developing effective treatment strategies for pediatric and adolescent patients with psychosis.
RESUMO
Biallelic mutations in ECHS1, encoding the mitochondrial enoyl-CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia-ataxia syndrome with hearing loss and a peculiar torsional nystagmus observed in two adult siblings. The presence of a 0.9-ppm peak at MR spectroscopy analysis suggested the accumulation of branched-chain amino acids. Exome sequencing in index probands identified two ECHS1 mutations, one of which was novel (p.V82L). ECHS1 protein levels and residual activities were reduced in patients' fibroblasts. This paper expands the phenotypic spectrum observed in patients with impaired valine catabolism.