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Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected…
Background Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. Methods We…
Rett syndrome (RTT) considerably limits participation in daily activities but food and mealtimes are most often motivating activities for persons with RTT. The aim of this study was to investigate whether there is a difference in participation during…
Background Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS.…
OBJECTIVES: To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD.;STUDY DESIGN: We retrospectively studied 4 patients with…
We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was…
BACKGROUND: Sleep problems are common in individuals with intellectual disability. Little is known about sleep in children and adults with Cri du Chat syndrome (CDC).;METHOD: Sleep was investigated in 30 individuals with CDC using a sleep…
The study of selective attention and its influence on communication in patients with Rett Syndrome (RS), in which communication abilities are impaired is particularly relevant. The aim of this study was to analyse attention and communication…
Tuberous sclerosis complex (TSC) (OMIM191100) is a genetic disorder with multi-system involvement including neurodevelopmental manifestations. There is great interest in understanding the pathogenetic mechanisms underlying these neurobehavioral and…
BACKGROUND AND PURPOSE: The purpose of this study was to describe gait parameters in children and adolescents with a diagnosis of Friedreich ataxia (FA) and examine the relationship between disease severity, measured by the Friedreich Ataxia Rating…
To test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety-six patients with a molecular genetic diagnosis of FRDA…
Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as…
BACKGROUND: Life-sustaining medical care of patients with advanced cancer at the end of life (EOL) is costly. Patient-physician discussions about EOL wishes are associated with lower rates of intensive interventions. METHODS: Funded by the National…
OBJECTIVES: To assess neonatology fellow training in guiding family decision making for high-risk newborns and in several critical communication skills for physicians in these scenarios. DESIGN: A Web-based national survey. SETTING:…
Palliative care services are increasingly available to primary care physicians for both expert consultations and services to seriously ill patients. The United States now has more than 1400 hospital-based palliative care teams and more than 4700…
CONTEXT: There are few randomized controlled trials on the effectiveness of palliative care interventions to improve the care of patients with advanced cancer. OBJECTIVE: To determine the effect of a nursing-led intervention on quality of life,…
Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents…
The aim of this study was to characterize the pharmacokinetics and pharmacodynamics of morphine and morphine 6-glucuronide (M6G) in children with cancer. Serum concentrations of morphine and M6G in children who received single oral or short term…
BACKGROUND: The purpose of the current study was to investigate longitudinally children's behavioral and social competence outcomes up to 2 years after pediatric stem cell transplantation (SCT) and related factors. METHODS: Ninety-nine mothers and 24…
OBJECTIVES: To determine whether new-onset clinical depression emerges over time, and whether positive and negative mood levels change among patients with terminal cancer. METHODS: In this two-site study, 58 cancer patients seen at least twice were…
The objective of this study was to explore the current practice and attitudes of pediatric cardiologists in the United States and Europe on the transfer and transition of children with congenital heart disease (CHD). A survey among pediatric…
Neonatal seizures represent a major challenge among the epilepsies vis-a-vis seizure classification, electroclinical correlation, inherent excitability of neocortex, ontogenic characteristics of neurotransmitter receptors, and responsiveness to…
BACKGROUND: Language barriers complicate physician-patient communication and adversely affect healthcare quality. Research suggests that physicians underuse interpreters despite evidence of benefits and even when services are readily available. The…
Guidelines published in 2001 recommended 1 regional adult congenital heart disease (ACHD) center per 3 to 10 million population. Our objective was to determine if published guidelines on the numbers of regional ACHD centers are sufficient to meet the…
BACKGROUND AND OBJECTIVE: Even though patients with cystic fibrosis (CF) are continuously improving their life expectancy, guidelines for transition to adult services have not been clearly determined yet. The aim of this study was to analyze the…
OBJECTIVE: To investigate the relationship of coping style and self-efficacy to functional impairment in a group of patients with both chronic widespread pain (CWP) and chronic fatigue, as well as the possible mediating role of psychiatric diagnosis.…
PURPOSE: To explore gender differences in prevalence, types, perpetrators, and correlates of recent violence experiences among university students at campus clinics at five universities in the Midwest and Pacific Northwest U.S. and Canada. METHODS:…
OBJECTIVES: To evaluate whether adult specialists comply with the basic principles for a successful transition of adolescents with chronic disorders, and to determine whether the characteristics of the adult specialists have an influence on applying…
BACKGROUND: Several guidelines for cystic fibrosis (CF) caregivers exist, but information about their implementation is lacking. METHODS: Adherence to European Consensus Guidelines for CF was studied by sending surveys to named healthcare…
The timing of the measurement of biological samples (e.g. biomarkers) is not always standardized. Biomarkers are the focus of many recent studies and treatments. The purpose of this study was to determine the timing of the release of beta-endorphin…
The aim of our study was to describe trends in opioid use and perceptions of having hastened the end of life of a patient. In 2005, a questionnaire was sent to 6860 physicians in The Netherlands who had attended a death. The response rate was 78%. In…
Oregon legalized physician aid in dying over 10 years ago but little is known about the effects of this choice on family members' mental health. We surveyed 95 family members of decedent Oregonians who had explicitly requested aid in dying, including…
Procedural pain in the neonatal intensive care unit triggers a cascade of physiological, behavioral and hormonal disruptions which may contribute to altered neurodevelopment in infants born very preterm, who undergo prolonged hospitalization at a…
BACKGROUND: Most estimates of the prevalence of seizure disorders in Canada derive from national surveys which differ in sampling and case-finding methods. This study used health care utilization data to make a population-based estimate of the…