Browse Items (357 total)

Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the…

Background: GPi (Internal globus pallidus) DBS (deep brain stimulation) is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia. Objectives: This report describes the long-term clinical…

INTRODUCTION: Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features,…

Esophageal stricture is one of the most common gastrointestinal complication in epidermolysis bullosa patients. We describe the technique of esophageal stricture dilatation, with a focus on safety and procedural modifications. Case series of 6…

INTRODUCTION: Gabapentin has been used in the management of neuropathic pain, epilepsy and occasionally movement disorders. METHODS: A four-year retrospective, observational study analysed the use of gabapentin for severe dystonia in children at the…

Purpose: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and to determine the association between the sleep difficulties and the onset of seizures and loss of vision.Method: We recruited…

AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia…

Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to…

BACKGROUND: Cannabis extracts have a wide therapeutic potential but in many countries they have not been approved for treatment in children so far. OBJECTIVE: We conducted an open, uncontrolled, retrospective study on the administration of dronabinol…

Lesch-Nyhan disease (LND) is a genetic disorder that has characteristic metabolic, neurologic, and behavioral features. There are multiple behavioral problems including impulsivity, aggressiveness, and severe recurrent self-injurious behavior (SIB).…

OBJECTIVE: Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by cholesterol synthesis impairment. A host of physical, developmental, and behavioral presentations are associated with SLOS, many of which have been related with…

© 2016 Downs et al. Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross…

The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were…

Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38 children with MEGDEL, a rare neurodegenerative cause of dystonia and report on the clinical course of four patients. Drooling…

Background Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be…

Tags: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,

BACKGROUND: Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and…

Aim: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. Methods: The gait parameters of 14 participants with CdCS (mean…

BACKGROUND: Cancer in a child is associated with a significant impact on parental employment. We assessed the proportions of parents of survivors and bereaved parents working and reporting sick leave five years after end of successful treatment…

BACKGROUND: The number of children worldwide requiring palliative care services is increasing due to advances in medical care and technology. The use of outcome measures is important to improve the quality and effectiveness of care. AIM: To…

Understanding parental experiences following infant death in the neonatal intensive care unit (NICU) is a high research priority and a necessary first step to improving health services. However, recruiting bereaved parents to discuss their…

INTRODUCTION: The possibility of sustaining life functions makes it difficult to distinguish between a dying patient and a patient with chances of survival, raising a dilemma for everyone around them. On the one side, continuing with life support…

Palliative care is delivered in almost all settings where healthcare is provided, including neonatal units, paediatric services, acute hospitals, general practices, community settings and aged care services. People who are dying have needs which…

BACKGROUND: Bereaved parents experience significant psychosocial and health sequelae, suggesting that this population may benefit from the ongoing extension of support and resources throughout the grief journey. The interaction of hospital staff with…

BACKGROUND: The death of a child is a devastating event that results in profound grief and significant psychosocial and physical morbidities in parents. The parental grief journey is a complex phenomenon necessitating the utilization of newer models…

BACKGROUND: Reports of acceptability of psychosocial screening are limited, and the utility of screening in identifying risk factors for health-related quality of life (HRQL) of children with cancer has not been established. This study aimed to…

OBJECTIVES: A systematic review was conducted to (1) investigate couple functioning after a pediatric cancer diagnosis and (2) examine theoretical and methodological tendencies and issues in this literature. METHODS: Searches of Web of Science,…
Output Formats

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