Browse Items (59 total)

We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3y 4mo]; range 6y 9mo to 18y 8mo). Twenty-five children…

Sanfilippo syndrome is a rare degenerative disorder which has severe intellectual and behavioural sequelae, commonly including sleep problems. A parental questionnaire was used to gather information on the sleep patterns of 80 children with…

AIM: We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. METHOD: Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with…

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…

The early development of self-injurious behaviour in three young boys (aged 17, 25, and 30 months at start of study) with Lesch-Nyhan syndrome was examined by means of parental interviews and by direct observations completed at 3 to 4 monthly…

Aim: To describe trends in gastrostomy tube insertion in children with developmental or acquired disorders in Sweden and assess their demographic characteristics. Method(s): Children aged 0 to 18 years with gastrostomy tube insertions recorded…

This report describes trends, predictors, and causes of mortality in persons with cerebral palsy (CP) using individuals identified by the Western Australian Cerebral Palsy Register and born between 1958 and 1994. Two thousand and fourteen people were…

AIM: The aim of the study was to determine survival probabilities and life expectancies for individuals with cerebral palsy based on data collected over a 28-year period in California. METHOD: We identified all individuals with cerebral palsy, aged 4…

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the…

Epilepsy has a significant impact on a child's life, the extent to which is based on four factors: epilepsy, cognition, behavioral, and physical/neurologic function. This study evaluates the ability of the 44-item Impact of Childhood Neurologic…

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills,…

Sanfilippo syndrome is a rare degenerative disorder which has severe intellectual and behavioural sequelae, commonly including sleep problems. A parental questionnaire was used to gather information on the sleep patterns of 80 children with…

A prospective controlled study with repeated measures before and after surgery examined the medical, surgical, and health outcomes of gastrostomy for children with disabilities at a tertiary paediatric referral centre in the North Thames area, UK.…

Objectives: To identify barriers to delivering patient and family centred end of life care to children with neurodegenerative disease, of which seizures and myoclonic epilepsy is a significant symptom. To highlight good practice in delivery of end of…

AIM: To assess reliability and predictive validity of the neurological scale of the Standardized Infant NeuroDevelopmental Assessment (SINDA), a recently developed assessment for infants aged 6 weeks to 12 months. METHOD: To assess reliability, three…

Objective: Controlling seizures in children approaching death is often challenging. The evidence base to guide best practice is limited. We aimed to compare our current practice against the guidance for seizure management produced by the Association…

Children with severe neurodevelopmental impairment are at risk for recurrent hypothermia, defined as a temperature of less than 35 degrees C, as a result of hypothalamic dysfunction. Acute pancreatitis following hypothermia from environmental…

Objective: The care provided in the time surrounding the death of a child shapes long-term memories and has potential to impact on the grieving process. There are no specific guidelines for PICU staff in relation to what good care looks like at this…

Introduction: This National Hospital Clinical Research Program (PHRC) was conducted in France between 2012 and 2016 to depict palliative practices in spinal muscular atrophy type 1 (SMA-1). New drugs (Nusinersen) have been developed and may modify…

Sleep disorders were investigated in 40 children with tuberous sclerosis (TS) and compared with those found in non-disabled children and those reported in a mixed group with learning disabilities. Significantly higher levels of sleep disturbance were…

The Paediatric Pain Profile (PPP) is a 20-item behaviour rating scale designed to assess pain in children with severe neurological disability. We assessed the validity and reliability of the scale in 140 children (76 females, mean age 9 years 11…

AIM: This study aimed to systematically review the psychometric properties and clinical utility of measures of activities of daily living (ADL) for children with cerebral palsy (CP) aged 5 to 18 years. METHOD: Five electronic databases were searched…

AIM: To develop a core outcome set (COS) for evaluating gastrostomy/gastrojejunostomy tube impact in children with neurological impairment. METHOD: Healthcare providers/researchers and caregivers rated the importance of candidate outcomes on a…

Aim: To evaluate parental perception of advance care plan (ACP) discussions in families of Malaysian children with bilateral cerebral palsy (CP) classified in Gross Motor Function Classification System levels IV or V for (1) acceptance of the ACP…

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…

Nine girls with Rett syndrome (mean age, 10.1 years) were monitored 24 hours a day over a period of 10 weeks using wrist actigraphy. Baseline sleep-wake patterns were assessed for 1 week. Subsequently, patients underwent a 4-week melatonin treatment…

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.…

Introduction: Advancement in medical science and better health care has led to increased survival of children with complex neurodisability (cerebral palsy, neuromuscular, neuro-metabolic, and genetic disorders). Paediatric palliative care has…

This paper reports the development and validation of a disease-specific measure of health status and well-being of children with severe cerebral palsy (CP). The Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) was…

The aim of this study was to investigate how parents cope with and care for a child with Dravet syndrome, a severe myoclonic epilepsy with three distinct stages. Twenty-four parents of children with Dravet syndrome participated in a semi-structured…

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with…

Batten disease, the most common form of the neuronal ceroid lipofuscinoses, is a genetic life-limiting neurodegenerative condition that presents as early-onset dementia in children (Mole, Williams and Goebel, 2011). Symptoms include blind-ness,…

Sleep disturbances in children with neurodevelopmental disabilities are common and frequently difficult to treat with conventional pharmacological and behavioural methods. Melatonin is a pineal hormone known to be important in the regulation of the…
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