Browse Items · Pediatric Palliative Care Library

Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants

Cataplexy is a brief episode of bilateral loss of muscle tone with intact consciousness, triggered by a variety of strong emotions such as anger, laugh, humor or surprise and it is considered to represent the physiologic atonia of rapid eye movement…

Tags: 2014, Cak H T, cataplexy, Duzgun G, European Journal of Paediatric Neurology, Haliloglu G, Imipramine, NPC, pharmacologic intervention, tone and motor problems, Topcu M, Yuce A

Melatonin appears ineffective in children with intellectual deficits and fragmented sleep: six "N of 1" trials

International Cooperative Ataxia Rating Scale (ICARS): Appropriate for studies of Friedreich's ataxia?

Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties…

Tags: 2005, Cano S J, Cooper J M, Friedreich's ataxia, Hart P E, Hobart J C, Korlipara L V P, Movement Disorders, scale development, Schapira A H V, tone and motor problems, tool development

Polysomnographic findings in Rett syndrome: a case-control study

PURPOSE: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and usually linked to mutations in the methyl-CpG-binding protein 2 gene, with an estimated prevalence of 1 in 10,000 live female births. Clinical features which…

Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. I-land…

Findings from a multidisciplinary clinical case series of females with Rett syndrome

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,…

Tags: 2003, breathing difficulties, Cass Hilary, characteristics, Charman T, Constipation, Developmental Medicine and Child Neurology, feeding difficulties, Owen L, Reilly S, Rett syndrome, sleep disturbance, Slonims V, Trajectory, Weekes L, Wigram T, Wisbeach A

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN…

Tags: 2005, Annals Of Neurology, Castelnau P, Cif L, Coubes P, Digiorgio A, Dystonia, Gannau A, Hemm S, IND, Pallidal Stimulation, surgical intervention, tone and motor problems, Valente E M, Vayssiere N

Severity score system for progressive myelopathy: development and validation of a new clinical scale

Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for…

Tags: 2012, Adrenomyeloneuropathy, Blank D, Castilhos R M, Fernandes L N T, Giugliani R, Jardim L B, MPS I, MPSIV, Mucolipidosis, myelopathy, Netto C B O, scale development, Schwartz I V D, Souza C F M, The Brazilian Journal of Medical and Biological Research, tone and motor problems, tool development

Females experience a more severe disease course in batten disease

Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with vision loss followed by progressive cognitive decline, motor…

A national survey of Rett syndrome: behavioural characteristics

BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved…

A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical…

Tags: 2015, American Journal of Medical Genetics Part A, bowel problems, breathing difficulties, characteristics, Cianfaglione R, Clarke A, Constipation, Epilepsy, feeding difficulties, Felce D, gastrointestinal problems, Hastings R P, Kerr M, Oliver C, Rett syndrome, tone and motor problems, Trajectory, weight

Direct Observation of the Behaviour of Females with Rett Syndrome

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…

Tags: 2016, Behavior, breathing difficulties, characteristics, Cianfaglione R, Clarke A, Felce D, hand stereotypies, Hastings R P, Journal of Developmental and Physical Disabilities, Kerr M, Meek A, Rett syndrome, self-injury, stereotypy, tone and motor problems, Trajectory

Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes

Problem behaviors of individuals who had one of three chromosome deletion disorders (5p- cri-du-chat, 15q- Prader-Willi, or 17p- Smith-Magenis) were investigated. The Aberrant Behavior Checklist was used. Results were contrasted with those of two…

Tags: 1998, American Journal of Mental Retardation, behavioral problems, Boer H, characteristics, Clarke D J, Cri-du-chat, Trajectory

Association Between Fatigue and Autistic Symptoms in Children With Cri du Chat Syndrome

In the current study, the authors examined whether the fatigue level of children diagnosed with cri du chat syndrome was associated with the expression of autistic symptoms. Sixty-nine children with cri du chat syndrome were compared with 47 children…

Tags: 2011, alertness, American Journal on Intellectual and Developmental Disabilities, autistic symptoms, characteristics, Claro A, Cornish K, Cri-du-chat, Fatigue, Gruber R, sleep disturbance, Trajectory

A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome

The aim of the present study was to determine the prevalence and frequency of stereotypy, self-injurious behaviour (SIB), and aggression in children and adults with Cri du Chat syndrome (CCS), and to investigate the relationship between SIB,…

Sleep problems in children with Sanfilippo syndrome.

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…

Increased prevalence of sleep-disordered breathing in Friedreich ataxia

Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods:…

Tags: 2013, adults, apnea syndrome, breathing difficulties, characteristics, Copland J, Corben L A, daytime sleepiness, Delatycki M B, Disease, Friedreich's ataxia, Ho M, Neurology, Neurosciences & Neurology, obstructive sleep apnea, Reliability, Scale, Tai G, Trajectory

A comparison of three measures of upper limb function in Friedreich ataxia

Friedreich Ataxia (FRDA) is the commonest inherited ataxia. Clinical trials of pharmaceuticals are increasingly being conducted in this condition. This requires the most accurate outcome measures to enable trials to be conducted with a minimum number…

Tags: 2010, characteristics, Churchyard A J, Collins V, Corben L A, Delatycki M B, Friedreich's ataxia, Journal Of Neurology, Tai G, tone and motor problems, Trajectory, Wilson C

Adaptive and maladaptive behaviour in children with Cri-du-chat syndrome

Twenty children with cri-du-chat syndrome were assessed on the Vineland Adaptive Behavioural Scales. Strengths within rather than between the adaptive domains were identified with posthoc analyses revealing the main differences to lie within the…

Tags: 1998, Bramble D, characteristics, Cornish K M, Cri-du-chat, externalizing behaviors, hyperactivity, impulsiveness, Journal Of Applied Research In Intellectual Disabilities, Munir F, poor concentration, Psychology, Rehabilitation behavioral problems, Trajectory

Developmental and behavioural characteristics of cri du chat syndrome

Developmental and behavioural characteristics were assessed in 27 children with cri du chat syndrome using the Society for the Study of Behavioural Phenotypes questionnaire, which gave information on prenatal and perinatal conditions, neurological…

Tags: 1996, Archives of Disease in Childhood, Behavior, bowel incontinence, characteristics, clumsiness, Cornish K M, Cri-du-chat, feeding difficulties, obsessive attachment to objects, Pigram J, repetitive movements, self-injury, sound hypersensitivity, tone and motor problems, Trajectory, urinary incontinence

Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia

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…

Tags: 2009, characteristics, Croarkin E, DiProspero N, Friedreich's ataxia, Harris-Love M, Journal of Neurologic Physical Therapy, Maring J, Pfalzer L, Siegel K, tone and motor problems, Trajectory

Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders

The mucopolysaccharide disorders (MPS) are a group of recessively inherited metabolic disorders resulting in progressive physical and cognitive decline. MEDLINE, PsycINFO and Embase databases were searched, alongside manual screening, to identify…

An investigation of the middle and latebehavioural phenotypes of Mucopolysaccharidosis Type-III

PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of…

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

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…

Tags: 2017, Adolescent, Adult, Aged, Aguilera-Albesa S, Behavior, Castro C A, Child, Coelho M, Cognitive Dysfunction/di [Diagnosis], Cognitive Dysfunction/et [Etiology], Correia G L, Costa C, Cross-sectional Studies, Cuadras P D, Darling A, Disabled Persons, dystonia/di [Diagnosis], Dystonia/et [Etiology], Espinos C, Ferreira J, Garcia P J, Garrido C, Gaston I, Gavilan I T, Gonzalez G L, Gutierrez F, Hernandez L C, Humans, IND, Lin J P, Lorenzo S G, Lupo V, Madruga M, Magalhaes M, Marti M J, Marti S L, Martinez-Martin P, Martorell L, Mental Disorders/di [Diagnosis], Mental Disorders/et [Etiology], Middle Aged, Moreira F, Movement Disorders, Nardocci N, Ocular Motility Disorders/di [Diagnosis], Ocular Motility Disorders/et [Etiology], Ortigoza E J D, Pantothenate Kinase-Associated Neurodegeneration/co [Complications], Pantothenate Kinase-Associated Neurodegeneration/di [Diagnosis], Pantothenate Kinase-Associated Neurodegeneration/ge [Genetics], Parkinsonian Disorders/di [Diagnosis], Parkinsonian Disorders/et [Etiology], Perez D B, Pilot Projects, Pires P, PKANDRS, Pons R, Pujol M, Ramos L J, Rego P, Reproducibility of Results, Rodriguez-Blazquez C, scale development, Severity Of Illness Index, Stamelou M, Stefanis L, Tello C, Temudo T, Tomas V M, tone and motor problems, tool development, Tustin K, Vela L, Young Adult, Zorzi G

Motor Function Measure: Validation of a Short Form for Young Children With Neuromuscular Diseases

Objective: To validate a useful version of the Motor Function Measure (MFM) in children with neuromuscular diseases aged .90), and discriminant validity was good. Conclusions: The MFM-20 can be used as an outcome measure for assessment of motor…

Prolonged-release melatonin for children with neurodevelopmental disorders

Previous studies demonstrated the efficacy and safety of prolonged-release melatonin in children and adolescents with neurodevelopmental and behavioral disorders. The long-term effectiveness and safety of prolonged-release melatonin treatment were…

Tags: 2011, De Leersnyder H, Laudon M, melatonin, Pediatric Neurology, pharmacologic intervention, PR melatonin, prolonged-release melatonin, Rett syndrome, sleep disturbance/disorders, Zisapel N

Neuropsychological attention deficits in tuberous sclerosis complex (TSC)

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…

Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist

BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral,…

Tags: 2015, Behavior, Byars A W, de Vries P J, Dunn D, Ess K C, feeding difficulties, Hook D, J ansen A, King B H, Leclezio L, Pediatric Neurology, Sahin M, scale development, sleep disturbance, TAND checklist, tool development, Tuberous Sclerosis, Whittemore V H

Orthopedic manifestations and implications for individuals with Costello syndrome

Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature,…

Tags: 2013, American Journal of Medical Genetics Part A, characteristics, Conway L, costello syndrome, Detweiler S, Gripp K W, Hopkins E, orthopedic manifestations, Thacker M M, tone and motor problems, Trajectory

Sleep problems and daytime problem behaviours in children with intellectual disability

BACKGROUND: Sleep problems are common among children with intellectual disability (ID). METHOD: The present study assessed the prevalence of severe sleep problems in a sample of children (n=286) with mild to profound ID who lived at home with their…

Melatonin for treatment of sleep disorders in children with developmental disabilities

This study explored the safety and efficacy of synthetic melatonin in the treatment of sleep problems in 20 children with developmental disabilities, in a randomized, double-blind, placebo-controlled 6-week trial of melatonin versus placebo. All but…

Tags: 2001, Developmental Disabilities, Dodge N N, Journal of Child Neurology, melatonin, Neurosciences & Neurology, Pediatrics, pharmacologic intervention, sleep disturbance/disorders, unspecified developmental disabilities, Wilson G A

Gross motor profile in rett syndrome as determined by video analysis

Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the…

Tags: 2008, Bahi-Buisson N, Bebbington A, characteristics, Downs J A, Fyfe S, Jacoby P, Kaufmann W E, Leonard H, McIlroy O, Msall M E, Neuropediatrics, Rett syndrome, tone and motor problems, Trajectory

Longitudinal Hand Function in Rett Syndrome

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping…

Tags: 2011, Bebbington A, characteristics, Downs J, Journal of Child Neurology, Kaufmann W E, Leonard H, Rett syndrome, tone and motor problems, Trajectory

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Background: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. Methods: Twenty-six…

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

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…

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

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…

Browse Items (291 total)