BackgroundThis paper aimed to evaluate the frequency of observation of genetically determined developmental encephalopathies with epilepsy and movement disorders in a specialistic center, the distribution of etiologies and presenting clinical hallmarks, and the mean times for the achievement of molecular genetic diagnosis.Patients and MethodsRetrospective data about clinical phenotypes, etiology, and diagnostic pathways were collected in all the genetically confirmed patients with developmental encephalopathies with epilepsy and movement disorders referred to our institution between 2010 and 2020. The cohort was divided into two groups according to the predominant movement disorder type: 1) Group A: patients with hyperkinetic movement disorders; 2) Group B: patients with hypokinetic movement disorders. Both groups were analyzed in terms of developmental, epileptic, and movement disorder phenotypes.ResultsThe cohort included 69 patients (Group A = 53; Group B = 16). The etiological spectrum was heterogeneous with a predominance of Rett and Angelman syndrome in Group A and neurodegenerative disorders in Group B. A moderate/severe intellectual disability was assessed in 58/69 patients (mean age at the first signs of developmental impairment = 1,87 ± 1,72 years). Group A included patients with an earlier onset of epileptic seizures (2,63 ± 3,15 vs. 4,45 ± 5,55 years of group B) and a predominant generalized motor semiology of seizures at the onset. Focal seizures were the main initial epileptic manifestations in Group B. Seizures were noticed earlier than movement disorders in Group A while the opposite occurred in Group B. A higher increase in molecular genetic diagnosis was obtained in the last five years. Mean diagnostic delay was longer in Group B than in Group A (12,26 ± 13,32 vs. 5.66 ± 6.41 years). Chorea as an initial movement disorder was associated with a significantly longer diagnostic delay and a higher age at etiological diagnosis.ConclusionsThis study suggested: (a) a higher frequency of genetic defects involving neurotransmission, neuronal excitability, or neural development in patients with hyperkinetic movement disorders; (b) a higher frequency of neurodegenerative courses and a longer diagnostic delay in patients with hypokinetic movement disorders.
Background. This study aimed to investigate the consequence of the COVID 19-related lockdown on the well-being of children with neurological and neurodevelopmental disorders and the repercussion on parental stress during the period 9 March 2020–3 May 2020. Methods. A web-based survey was shared via mail with the parents of children affected by chronic neurologic disorders and neurodevelopmental disorders in the continuity of care in two Italian tertiary centers, independently by the severity of the diseases and the required frequency of controls. For each patient, they were asked to identify a single main caregiver, among the two parents, to fill in the questionnaire. Parental stress was measured via the Perceived Stress Scale (PSS). Statistical analysis was performed with IBM SPSS Statistics version 25. The differences between the clinical groups were performed with one way ANOVA. The dimensional effect of the clinical variables on outcome was evaluated by multiple linear regression analysis. The statistical significance was considered when the p-value was <0.05. Results. The survey was completed by 250 parents (response rate = 48.9 %). Sars-Cov2 infection was reported in two patients only. A total of 44.2% of the patients had completely interrupted school activities while 70% of parents underwent changes in their job modalities. Health care services were disrupted in 77% of patients. Higher PSS scores were detected in the parents of children with neurodevelopmental disorders (p = 0.035). Conclusions. The loss of continuity of care during the lockdown must be considered as a risk factor for parents caring for children with chronic neurologic diseases and neurodevelopmental disorders in further phases of the current pandemic.
Sleep terrors (STs) are sleep disorders characterized by abrupt arousal from sleep with autonomic hyperactivity and inappropriate behavior. Though a common condition in childhood that usually affects children between 4 and 12 years of age, STs, however, may be present even in adulthood. The exact etiology of STs is not known yet, however, several hypotheses have been proposed over the years, identifying some potential genetic, neurodevelopmental, or other causes. Nevertheless, a useful pathophysiological model identified a common cascade of predisposing, priming, and precipitating factors, which could help to explain and sometimes prevent STs. Establishing a correct diagnosis is mandatory for appropriate management, as several conditions (such as other parasomnias or nocturnal seizures) may mimic STs. Furthermore, we also described some conditions which can be comorbid to STs, like some medical or psychological disorders. A number of treatment options have been proposed, ranging from only sleep hygiene practices to pharmacological therapies; we reviewed some of the most prominent ones. In spite of the fact that STs have long been considered benign disorders, which tend to reduce spontaneously over the years, they may have unexpected consequences on the child but also on the caregivers.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.