Browse Items (45 total)

Background: Communication around serious illness is a core competency for all residencies. One-fifth of neurology residencies have no curriculum. Published curricula use didactics or role-play to assess confidence performing this skill without…

Fetal neurology is a rapidly evolving and expanding field. Discussions about diagnosis, prognosis, treatment options, and goals of care often begin in the antenatal period. However, there are inherent challenges to fetal counseling of neurological…

Although medicolegal challenges to the use of neurologic criteria to declare death in the USA have been well-described, the management of court cases in the United Kingdom about objections to the use of neurologic criteria to declare death has not…

In this review, we report the developments across pediatric subspecialties that have been published in the Italian Journal of Pediatrics in 2021. We highlight advances in allergy and immunology, critical care, endocrinology, gastroenterology,…

OBJECTIVES: Parents who have children with complex lifelong and life-limiting neurological conditions experienced many stresses and anxieties throughout their lives as caregivers. However, this information is still very limited. The study aimed to…

Many serious or life-threatening neurologic conditions are first diagnosed during the fetal period, often following a routine prenatal ultrasound or sonographic evaluation after an abnormal aneuploidy screen. Such conditions represent a worrisome or…

Background: Neonatal seizures are associated with death and neurological morbidity; however, little is known about how neonates with seizures die. Method(s): This was a prospective, observational cohort study of neonates with seizures treated at…

Background: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with…

Background Psychological tests can be useful to record adaptive and maladaptive behaviours of children with intellectual disability. The objective of this study was to describe the adaptive and maladaptive behaviour of children and adolescents with…

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…

Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have…

Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods:…

To study the effect of dopaminergic drugs on the parkinsonism in juvenile neuronal ceroid lipofuscinosis, the authors conducted an open study of 21 patients. According to the motor Unified PD Rating Scale (UPDRS) score, treatment was initiated with…

Palliative care services are beneficial for pediatric neurology patients with chronic, life-limiting illnesses. However, timely referral to palliative care may be impeded due to an inability to identify appropriate patients. The aim of this pilot…

Neurologic determination of brain death is a complex assessment that may be misunderstood by nonspecialists and families. Recent guidelines clarify how to proceed with such an examination and are available to physicians, with the time of death in…

Objectives: Dystonia and seizures can be common, unpredictable and distressing neurological symptoms in paediatric palliative care. Emergency seizure management is increasingly under joint neurology and palliative care, often incorporated into…

Background: The Centre for Pediatric Palliative Care at the Medical Center of the University of Munich is one of the largest in Germany. Care is provided yearly to 90-100 children with advanced lifelimiting diseases living at home (at a distance of…

OBJECTIVE: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). METHODS: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic,…

Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional…

OBJECTIVE: The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. For this…

BACKGROUND: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. OBJECTIVE: To better characterize the clinical features of HPE and identify specific…

We documented seizures in 33 of 68 (48.5%) children with congenital hydrocephalus not associated with myelomeningocele. Mental retardation (MR) and CNS malformations correlated with seizure occurrence; age at shunt insertion and number of shunt…

BACKGROUND: Sleep-disordered breathing (SDB) and respiratory failure (RF) are complications of acid maltase deficiency (AMD), a rare hereditary myopathy. OBJECTIVE: To define the relationship between lung and respiratory muscle function, to establish…
Output Formats

atom, dcmes-xml, json, omeka-xml, rss2