Browse Items (531 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…

We assessed a microswitch-based program to improve self-determination to access to preferred stimuli and to foster locomotor behavior by two girls with Rett syndrome and multiple disabilities. To enhance the first behavior (access to preferred…

Polygraphic recordings in the awake state and during sleep were performed in two girls with Rett syndrome, aged 9 y and 17 y, in order to characterize the clinically manifest breathing disorder of these patients. Primary hyperventilation was…

Aberrant sleep patterns are commonly experienced by girls with the Rett syndrome. In this investigation, the problematic sleep of three girls with the Rett syndrome was regulated using a bedtime fading procedure with response cost. The treatment…

Previous studies on the characteristics of disturbed sleep/wake patterns in children with the Rett syndrome have yielded inconsistent findings. In the current study, momentary time sampling procedures were used to measure the sleep/wake patterns of…

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: 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…

Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand…

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…

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 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…

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…

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Four patients with Lesch Nyhan disease were treated with L 5 hydroxytryptophan, alone, or in combination with carbidopa, and their effect on self mutilatory behavior was compared to that observed during periods in which placebo was administered.…

Background: Despite advances in medical technology, resources for pediatric palliative care (PPC) for children with serious illnesses are limited in South Korea. Physicians' awareness of and willingness to provide general palliative care and refer to…

Learning Objectives: Palliative Care (PC) is a scarce resource. Little is known about its allocation among critically ill children. Previously proposed criteria may help identify children who may benefit from PC. Method(s): This is a retrospective…

Learning Objectives: Integration of pediatric palliative care (PPC) into the management of children with serious illness and their families is widely endorsed by international organizations and experts in the field as standard of care. However,…

BACKGROUND: The majority of children with advanced heart disease in the inpatient setting die in an intensive care unit under 1 year of age following multiple interventions. While pediatric cardiology and palliative care provider attitudes have been…

The Photographs of Meaning Program for pediatric palliative caregivers (POM-PPCG) is an innovative, meaning-based intervention utilizing photovoice and social media components. In 2017, 9 pediatric palliative caregivers participated in this…
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