Browse Items (440 total)

Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and…

Purpose There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular)…

Background: The repertoire of measures of walking in Rett syndrome is limited. This study aimed to determine measurement properties of a modified two-minute walk test (2MWT) and a modified Rett syndrome-specific functional mobility scale (FMS-RS) in…

Objective To evaluate the reliability of the motor function measure (MFM) scale in the assessment of disease severity and progression when administered at home and clinic and assess its correlation with the Paediatric Outcomes Data Collection…

Background: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung…

The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was…

Carnitine is an essential nutrient for the mitochondrial transport of fatty acids. Carnitine deficiency causes a variety of symptoms in multiple organs. Patients with severe motor and intellectual disabilities often have carnitine deficiency. This…

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AIM Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current understanding of behaviour in CdLS.…

Aim: The symptoms of Huntington's disease are well known, yet the symptoms of juvenile Huntington's disease (JHD) are less established due to its rarity. The study examined a cluster of symptoms considered to be common, but under-recognized in JHD:…

Objectives: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of…

Background: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.Methods:…

The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with…

Background: Very little is known about sleep habits in children with agenesis of the corpus callosum (ACC). The purpose of this investigation was to evaluate sleep problems in children with ACC and examine the association with quality of…

Background Little is known regarding the neuropsychological profiles of pediatric patients with mitochondrial diseases or their parents, information that is crucial for improving the quality of life (QOL) for both patients and parents. We aimed to…

INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (WIT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who…

Aim: To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. Method: Sixty-four participants…

BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the…

Background In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and…

Introduction: Various factors hamper the bonding process between parents and their extremely premature baby. Parental bonding is especially difficult and complicated when babies do not survive and die either in the delivery room or in the neonatal…

Introduction: The Children's Hospital of Eastern Switzerland (OKS) is a hospital with 76 beds. A multiprofessional PPC and ethic team was established in 2007. After nine years of intensive development our PPC program reached full size (notification…

Introduction: The birth of an extreme preterm infant often comes unexpectedly. Decisions, then, must often be made quickly and under circumstances that can be emotionally stressful for parents or morally burdensome for health care professionals. In…

Objective: The aim of this study was to investigate the availability and utilization of palliative care units among children with cancer in Japan. Methods: We conducted a nationwide cross-sectional survey of 368 palliative care units. We sent a…

In order to gain more insight on the influence of ethnic diversity in paediatric cancer care, the perspectives of care providers were explored. Semi-structured interviews were conducted among 12 paediatric oncologists and 13 nurses of two different…

OBJECTIVES: To determine which prognostic information sources parents find informative and which are associated with better parental understanding of prognosis. METHODS: Prospective, questionnaire-based cohort study of parents and physicians of…

BACKGROUND: Patients with a terminal illness should have access to their chosen location of death. Cancer is the leading cause of non-accidental death among adolescents and young adults (AYAs; those aged 15-39 years). Although surveys have suggested…

INTRODUCTION: In order to allow the young patient with CNS tumor to experience a peaceful death, specific palliative interventions are required for the control of pain, loss of consciousness, cognitive disturbances, communication and motor function…

OBJECTIVE: To explore recipients' perspectives on the range and origins of their emotional experiences during their 'bad news' consultations., METHODS: Participants were four bereaved families of children who had changed from active treatment to…

OBJECTIVE: This multicenter, parallel-group, randomized trial examined the effects of an animal-assisted intervention on the stress, anxiety, and health-related quality of life for children diagnosed with cancer and their parents. METHOD: Newly…

Objective Many bereaved siblings have still not come to terms with their grief many years after the loss, but few studies have focused on what can help. The aims of this study were to identify cancer-bereaved adolescents� and young adults� ways of…

BACKGROUND: Due to psychological distress and an increased care burden, parents of children diagnosed with cancer may face a higher risk of sickness absence from work. The objective of this study was to examine the association of childhood cancer…

Illness narratives have become very popular. The stories of children, however, are rarely ever studied. This paper aims to provide insight into how children, parents and physicians make sense of progressive childhood cancer. It also explores how this…
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