Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology
Tags: 2009, Arron K, behavioral problems, behavioural phenotype, brachmann-delange syndrome, characteristics, compulsive behaviors, compulsive behaviour, Cornelia de Lange syndrome, De Lange syndrome, Education & Educational Research, Genetics & Heredity, Hall S, hyperactivity, INDIVIDUALS, Intellectual disabilities, Journal Of Intellectual Disability Research, maladaptive behavior, mental-retardation, mutilative behavior, Neurology, Neurosciences &, Oliver C, People, Phenotype, prader-willi-syndrome, Psychiatry, rating-scale, Rehabilitation, repetitive behaviour, self-injurious behaviour, Sloneem J, stereotyped behaviour, stereotyped disorders, Trajectory
Self-injurious behaviour in Cornelia de Lange syndrome: 2. association with environmental events
Tags: 2009, Arron K, behavioral problems, behavioural phenotype, brachmann-delange syndrome, Children, Cornelia de Lange syndrome, De Lange syndrome, demand denial no contact, descriptive analysis, Education & Educational Research, Environment, environmental conditions, functional-analysis, Genetics & Heredity, Hall S, INDIVIDUALS, Intervention, Journal Of Intellectual Disability Research, Neurology, Neurosciences &, Oliver C, Phenomenology, Phenotype, prader-willi syndrome, Prevalence, Psychiatry, psychological intervention, Rehabilitation, self-injurious behaviour, self-injury, Sloneem J, social reinforcement, Symptoms
Building the repertoire of measures of walking in Rett syndrome
Tags: 2-minute, 2017, 6-minute, adults, Bisgaard A M, cerebral-palsy, Children, Disability And Rehabilitation, disability inventory, Downs J, functional mobility scale, girls, Leonard H, Modified two-minute walk test, Nordmark E, pediatric evaluation, Rehabilitation, Rett syndrome, Rett syndrome specific functional mobility scale, RSGMS, scale development, Stahlhut M, test-retest reliability, tone and motor problems, tool development, two-minute walk test, Walking
Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients
Tags: 2008, adults, Aggression, Autism, behavioral problems, Behavioral Sciences, characteristics, Disabilities, Epilepsy, Epilepsy and Behavior, Frontal, frontal-lobe seizures, gene, Halpern E F, identification, Kopp C M C, lobe, Major P, Montenegro M A, Muzykewicz D A, Neurosciences & Neurology, Newberry P, Psychiatry, Self-Injurious behavior, Staley B A, Thiele E A, Trajectory, Tuber location, Tuberous Sclerosis, Tuberous sclerosis complex
Non-endoscopic percutaneous gastrostomy placement in children with recessive dystrophic epidermolysis bullosa
Tags: "Push", 2008, Anesthesia, Azizkhan R G, Chile, dilation, epidermolysis bullosa, Esophageal strictures, Farrell M K, feeding difficulties, Gastrostomy, gastrostomy tube placement, iind international-symposium, Johnson N D, Lucky A W, Management, non-endoscopic percutaneous gastrostomy, Nutrition, Pediatric Surgery International, Pediatrics, Racadio J M, santiago, Stehr W, Surgery, surgical intervention
Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
Tags: 2007, Barbosa C, Barbot C, behaviors, Borges L, Cabral A, Cabral P, Calado E, Carrilho I, characteristics, Dias A, Dias K, Eusebio F, Fonseca M, Gomes R, hair pulling, hand movements, Levy A, Maciel P, Mira G, Monteiro J, Moreira A, Neurology, Neurosciences & Neurology, normal human infants, Oliveira G, Oliveira P, Regression, Rett syndrome, Santos M, Sequeiros J, stage, stereotypy, Temudo T, tone and motor problems, Trajectory, Vieira J
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Tags: 2008, Barbot C, Borges L, Cabral A, Cabral P, Calado E, Carrilho I, characteristics, CHOREA, Dias K, Dystonia, females, Fonseca M, Gomes R, Levy A, Maciel P, Monteiro J P, Moreira A, Movement Disorders, Neurosciences & Neurology, Oliveira G, Parkinson, Ramos E, Rett syndrome, rigidity, Santos M, Sequeiros J, stereotypies, Temudo T, tone and motor problems, Trajectory, tremor, Vieira J P
The development and psychometric assessment of a questionnaire to assess sleep and daily troubles in parents of children and young adults with severe psychomotor impairment
Tags: 2014, Behavior, Blankenburg M, Caregivers, cerebral-palsy, characteristics, Children with severe psychomotor, Disability, disturbances, Hirschfeld G, HOST, impairment, instrument, Koh M, maternal sleep, Michel E, Neurosciences & Neurology, Otto M, Parents' impairment, Parents' questionnaire, Q3 conditions, quality index, scale development, Screening, sleep disturbance/disorders, Sleep disturbances, Sleep Medicine, test-retest reliability, Tietze A L, tool development, Trajectory, unclear Q3 conditions, VALIDATION, Validity, Zernikow B
Functional and gait assessment in children and adolescents affected by Friedreich's ataxia: A one-year longitudinal study
Tags: 2016, Adolescent, Article, assessment of humans, Bella G D, Bertini E, Castelli E, characteristics, Child, Clinical Article, Controlled Study, Female, Friedreich's ataxia, functional assessment, Gait, Gait Analysis and the Scale for the Assessment and Rating of Ataxia, Gazzellini S, Human, Lispi M L, longitudinal study, Male, Petrarca M, Pisano A, PLoS One, Preschool Child, Reliability, step length, stride length, tone and motor problems, Trajectory, Vasco G, Walking, walking velocity, Zazza M
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
Tags: 2001, Adolescent, Backes M, BJU International, characteristics, Child, Enuresis/etiology/physiopathology, Female, Humans, Laufersweiler-Plass C, Male, Muscular Atrophy Spinal/complications/physiopathology, Nerve Degeneration/complications/physiopathology, Rudnik-Schoneborn S, SMA1, Trajectory, urinary incontinence, Urinary Incontinence/etiology/physiopathology, von Gontard A, Zerres K
Responsiveness of the motor function measure in neuromuscular diseases
Tags: 2012, Adolescent, Adult, Aged, Archives Of Physical Medicine And Rehabilitation, Berard C, Child, Disability Evaluation, Ecochard R, Female, Fermanian J, Girardot F, Humans, Iwaz J, Male, MFM, Middle Aged, Mobility Limitation, motor function measure, Motor Skills, Muscular Dystrophy Duchenne/physiopathology/rehabilitation, Neuromuscular Diseases/physiopathology/rehabilitation, Payan C, Perception, Physical Therapy Modalities, Prospective Studies, Q3 conditions, scale development, SMA1, tone and motor problems, tool development, Vuillerot C, Young Adult
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions
Tags: 2016, Abbruzzese L D, Aubuchon M, characteristics, Children, concurrent task, Cri du Chat Syndrome, Dual-task, Gait, Gait & Posture, motor, Neurosciences & Neurology, older-adults, Orthopedics, parkinsons-disease, performance, Rao A K, Salazar R, Sport Sciences, tone and motor problems, Trajectory, Walking
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Tags: 2015, Abraham S S, characteristics, Classical Rett syndrome, Deglutition, Disorders, Djukic A, dysfunction, Dyskinesia, dysmotility, Dysphagia, Dystonia, Early Pseudostationary stage, feeding difficulties, Fluoroscopy, Genotype, girls, mecp2 mutations, Otorhinolaryngology, Phenotype, Rett syndrome, Swallowing, Taragin B, tone and motor, Trajectory, Videofluoroscopic study of swallowing, Women
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes
Tags: 2011, achondroplasia, Achondroplasia/di [Diagnosis], Achondroplasia/ep [Epidemiology], Achondroplasia/th [Therapy], Adolescent, Afsharpaiman S, Age Factors, Airway Obstruction/di [Diagnosis], Airway Obstruction/ep [Epidemiology], Airway Obstruction/th [Therapy], Ault J E, Body Mass Index, breathing difficulties, characteristics, Child, Child Preschool, Cohort Studies, Comorbidity, Cross-sectional Studies, Female, Humans, Infant, Male, obstructive sleep apnea, Polysomnography, Sheikhvatan M, Sillence D O, Sleep and Breathing, Sleep Apnea Central/di [Diagnosis], Sleep Apnea Central/ep [Epidemiology], Sleep Apnea Central/th [Therapy], Sleep Apnea Obstructive/di [Diagnosis], Sleep Apnea Obstructive/ep [Epidemiology], Sleep Apnea Obstructive/th [Therapy], Trajectory, Treatment Outcome, Waters K
Deep brain stimulation in children: experience and technical pearls
Tags: 2011, Adolescent, Adult, Age, Air E L, Brain/ra [Radiography], Child, deep brain stimulation, Deep Brain Stimulation/ae [Adverse Effects], Deep Brain Stimulation/mt [Methods], Dystonia/pp [Physiopathology], Dystonia/th [Therapy], Factors Brain/pa [Pathology], Female, Follow-up Studies, Glutaric acidemia type I, Humans, Journal of Neurosurgery - Pediatrics, Lesch-Nyhan syndrome, Magnetic Resonance Imaging, Male, Movement, Ostrem J L, Preschool, Retrospective Studies, Sanger T D, secondary dystonia, Starr P A, Tomography, tone and motor problems, X-Ray Computed Treatment Outcome
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease
Communication, Cognitive Development and Behavior in Children With Cornelia de Lange Syndrome (CdLS): Preliminary Results
Tags: 2014, AAC (augmentative and alternative communication), ability, Ajmone P F, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, autistic behavior, Behavior, behavioral symptoms, brachmann-delange syndrome, CdLS, Cereda A, characteristics, Costantino A, Dall'Ara F, De Lange syndrome, delange cornelia, externalizing behavior, Genetics & Heredity, INDIVIDUALS, intellectual disability (ID), language-skills, Milani D, Monti F, morphosyntactic, normal intelligence, Phenotype, Psychiatry, Rigamonti C, Selicorni A, tone and motor, Trajectory, Vizziello P
Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome
Endoscopic balloon dilatation of esophageal strictures in children
Tags: 2011, Alshammari J, atresia, Balloon dilatation, Children, conservative treatment, Couloigner V, dilation, Dysphagia, endoscopic balloon dilatation, epidermolysis bullosa, Esophageal strictures, Experience, feeding difficulties, ingestion, International Journal of Pediatric Otorhinolaryngology, Management, Otorhinolaryngology, Pediatrics, Pierrot S, Quesnel S, repair, surgical intervention
Self-injury in Lesch-Nyhan disease
Cognitive abilities of patients with Lesch-Nyhan disease
Tags: 1992, achievement, Adolescent, Adult, alertness, Anderson L T, attempted suicide, Awareness, Behavior Therapy, behavioral, characteristics, Child, Child Preschool, Combined Modality Therapy, Davis S V, Ernst M, Female, Humans, Intellectual Disability/di [Diagnosis], Intellectual Disability/px [Psychology], Intellectual Disability/th [Therapy], Intelligence, Journal of Autism and Developmental Disorders, Language Development Disorders/di [Diagnosis], Language Development Disorders/px [Psychology], Language Development Disorders/th [Therapy], Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/di [Diagnosis], Lesch-Nyhan Syndrome/px [Psychology], Lesch-Nyhan Syndrome/th [Therapy], Male, Neuropsychological Tests, Self-Injurious Behavior/di [Diagnosis], Self-Injurious Behavior/px [Psychology], Self-Injurious Behavior/th [Therapy], Social Adjustment, Social Behavior, Social Environment, Suicide, thinking, Trajectory
The effect of L 5 hydroxytryptophan on self mutilation in Lesch Nyhan disease: a negative report
Tags: 1976, Anderson L T, automutilation, behavioral problems, carbidopa, Child, Clinical Study, Clinical Trial, Controlled Study, Dancis J, Drug Therapy, Herrmann L, Human, L-5-hydroxyl-tryptophan, Lesch Nyhan syndrome, Major Clinical Study, Neuropadiatrie, pharmacologic intervention, PLACEBO, self-mutilation, Therapy
Behavioral contingencies and self-mutilation in Lesch-Nyhan disease
Tags: 1978, Adolescent, Alpert M, Anderson L, aversive stimulation electric shock, Behavior Therapy/mt [Methods], behavioral problems, Child, Dancis J, Humans, Journal Of Consulting And Clinical Psychology, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/px [Psychology], Lesch-Nyhan Syndrome/th [Therapy], Male Punishment, positive reinforcement, Preschool, psychological intervention, Self Mutilation/th [Therapy], self-injury, self-mutilation, time-out
Punishment learning and self mutilation in Lesch Nyhan disease
Tags: 1977, Alpert M, Anderson L, automutilation, aversion, aversive stimulation electric shock, behavioral problems, Child, Dancis J, etiology, Herrmann L, Learning, Lesch Nyhan syndrome, Nature, positive reinforcement, psychological intervention, punishment, reinforcement therapy, self-injury, self-mutilation, time-out
Efficacy and safety of endoscopic dilation of esophageal strictures in epidermolysis bullosa
Tags: 2004, Adolescent, Adult, Anderson S H C, Article, Balloon dilatation, barium, Body Weight, Chappiti U, contrast enhancement, Doig L, Dysphagia, Eady R A J, endoscopic balloon dilatation, endoscopic therapy, epidermolysis bullosa, epidermolysis bullosa/th [Therapy], esophagus dilatation, esophagus stricture/th [Therapy], feeding difficulties, Female, Follow Up, Gastrointestinal Endoscopy, Human, Major Clinical Study, Male, Meenan J, Morbidity, Nutritional Status, Prinja H, Priority Journal, Propofol, School Child, scoring system, surgical intervention, Thompson R P H, Treatment Outcome, Williams K N
The use and effectiveness of elbow splints in the Rett syndrome
Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
Tags: 2009, American Journal of Medical Genetics Part A, Axelrad M E, behavioral, characteristics, cognitive, costello syndrome, Disability, features, Fehlis J E, functioning, Genetics & Heredity, Gripp K W, Hopkins E, HRAS, longitudinal assessment, MAP kinase pathway, p.G12A, p.G12S, p.G13C, p.T581, Phenotype, Schwartz D D, Sol-Church K, Stabley D L, tone and motor, Trajectory
New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses--a pilot study
Tags: (Antipsychotic Agents) 0, (Benzodiazepines) 132539-06-1, (Citalopram) 12794-10-4, (Dibenzothiazepines) 0DHU5B8D6V, (olanzapine) 2S3PL1B6UJ, (Pirenzepine) L6UH7ZF8HC, (Quetiapine Fumarate) 3G0285N20N, (Second-Generation) 0, 2001, Aberg L E, Adolescent, Adult, Aggression, alertness, Antidepressive Agents, Aronen E T, Backman M L, Behavior, characteristics, European Journal of Paediatric Neurology, Risperidone, Santavuori P R, Second-Generation/ad [Administration & Dosage], Trajectory
Social and behavioral problems of children with agenesis of the corpus callosum
Tags: 2007, Agenesis of Corpus Callosum, agenesis of the corpus callosum, Aggression, alertness, Andrews G L, Attention, Autistic Disorder/epidemiology, Badaruddin D H, Behavior, behavioral, Bolte S, Brown W S, characteristics, Child, Child Preschool, Child Behavior Disorders/epidemiology, Child Psychiatry and Human Development, Female, Humans, Male, Paul L K, Schilmoeller G, Schilmoeller K J, sleep disturbance, Social Behavior, Surveys And Questionnaires, Trajectory
Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
Tags: 2015, anxiety, Autism spectrum disorder, Barnes K V, Bazin G A, Behavior, Beinecke E B, breathing difficulties, Bruck N, Cantwell N G, characteristics, Checklist, Children, Coughlin F R, Down-syndrome, fragile-x-syndrome, Intellectual disabilities, Journal of Neurodevelopmental Disorders, Kaufmann W E, mecp2, mental-retardation, mouse model, Neurosciences & Neurology, O'Leary H M, Problematic behavior, quality-of-life, Rett syndrome, severity, sleep disturbance, Social avoidance, Trajectory, Walco A C
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
Tags: 2007, anxiety, attention disorder, Autism, autistic-like features, Basile E, behavioral problems, behavioural phenotypes, brachmann-delange syndrome, CdLS, characteristics, Children, cognitive level, Communication, compulsive disorders, Cornelia de Lange, De Lange syndrome, Education & Educational Research, Genetics & Heredity, hyperactivity, Intellectual Disability, Intelligence, Journal Of Intellectual Disability Research, language-skills, mental-retardation, Molteni M, Neurology, Neurosciences &, nipbl, normal, Psychiatry, Rehabilitation, Self-Injurious behavior, self-injury, self-mutilative behavior, Selicorni A, Syndrome, Trajectory, Villa L
Deep Brain Stimulation in Rare Inherited Dystonias
Tags: 2016, Adolescent, Adult, Aged, Aquino C C, Article, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], ataxia telangiectasia/dt [Drug Therapy], atypical dopa responsive dystonia/di [Diagnosis], atypical dopa responsive dystonia/dt [Drug Therapy], Baclofen/dt [drug Therapy], Beaulieu-Boire I, benzodiazepine derivative/dt [Drug Therapy], Brain Depth Stimulation, Brain Stimulation, Burke Fahn Marsden Dystonia Rating Scale, cerebellar ataxia/di [Diagnosis], cerebellar ataxia/dt [Drug Therapy], Child, chorea/di [Diagnosis], chorea/dt [Drug Therapy], Clinical Article, clinical assessment, Clinical Effectiveness, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], deep brain stimulation, diazepam/dt [Drug Therapy], disease duration, Disease Severity, Dystonia, dystonia/di [Diagnosis], dystonia/dt [Drug Therapy], Dystonic Disorder/su [surgery], dystonic disorder/th [Therapy], entacapone/cb [Drug Combination], entacapone/dt [Drug Therapy], escitalopram/dt [Drug Therapy], extrapyramidal syndrome/di [Diagnosis], extrapyramidal syndrome/dt [Drug Therapy], Fallis M, Fasano A, Follow Up, gabapentin/dt [Drug Therapy], haloperidol/dt [Drug Therapy], Hodaie M, Human, Inherited dystonia, Kalia S K, Lang A E, levodopa/dt [Drug Therapy], lorazepam/dt [Drug Therapy], Lozano A, MCM deficiency, methylmalonic aciduria/di [Diagnosis], methylmalonic aciduria/dt [Drug Therapy], Middle Aged, mirtazapine/dt [Drug Therapy], Moro E, motor dysfunction assessment, NCL, Nemaline myopathy, nemaline myopathy/di [Diagnosis], nemaline myopathy/dt [Drug Therapy], neuronal ceroid lipofuscinosis/di [Diagnosis], neuronal ceroid lipofuscinosis/dt [Drug Therapy], olanzapine/dt [Drug Therapy], outcome assessment, Phenotype, Poon Y Y, pramipexole/cb [Drug Combination], pramipexole/dt [Drug Therapy], Preoperative Care, Priority Journal, Rating Scale, risperidone/dt [Drug Therapy], School Child, selegiline/cb [Drug Combination], selegiline/dt [Drug Therapy], Surgery, surgical intervention, tetrabenazine/dt [Drug Therapy], therapy effect, time to treatment, tizanidine/dt [Drug Therapy], tone and motor problems, trazodone/dt [Drug Therapy], Treatment, trihexyphenidyl/cb [Drug Combination], trihexyphenidyl/dt [Drug Therapy], Trisomy/di [diagnosis], trisomy/dt [Drug Therapy], Wilson disease/di [Diagnosis], Wilson disease/dt [Drug Therapy], woodhouse sakati syndrome/di [Diagnosis], woodhouse sakati syndrome/dt [Drug Therapy], x trisomy/di [Diagnosis], x trisomy/dt [Drug Therapy]
Behavioural phenotype of Cornelia de Lange syndrome
Levodopa is not a useful treatment for Lesch-Nyhan disease
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome
Tags: 2016, adenotonsillectomy, advice to interrupt tongue protrusion, antireflux medication, bilateral submandibular gland excision, Blommaert D, Erasmus C E, feeding advice, feeding difficulties, Hoogen F J A van den, Journal of Child Neurology, MEGDEL syndrome, parotid duct ligation, pharmacological intervention, surgical intervention, van Hulst K, Wortmann S B
Sleep problems and their management in Rett syndrome
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Tags: 0 (Methyl-CpG-Binding Protein 2), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Anderson B, Boban S, characteristics, Child, Child Preschool, Downs J, Epilepsy/di [diagnosis], Epilepsy/ge [Genetics], Epstein A, Genetic Association Studies, Genotype, Humans, Infant, Infant Newborn, Leonard H, Methyl-CpG-Binding Protein 2/ge [Genetics], Middle Aged, Murphy N, Mutation, Phenotype, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/ge [Genetics], Rett Syndrome/pp [Physiopathology], Severity Of Illness Index, sleep disturbance/disorders, Sleep Wake Disorders/di [Diagnosis], Sleep Wake Disorders/ge [Genetics], Trajectory, Wong K, Young Adult
Mitochondrial capacity, muscle endurance, and low energy in friedreich ataxia
Tags: 2017, Adolescent, Adult, alertness, Article, Bossie H M, cellular subcellular and molecular biological phenomena and functions, characteristics, Child, Clinical Article, Comparative Study, Controlled Study, Cross-sectional Study, Disease Severity, electrostimulation, endurance, energy, Fatigue, Female, Friedreich ataxia, Godin Leisure Time Physical Activity Score, Human, Male, McCully K K, mechanomyography, mitochondrial capacity, Muscle and Nerve, muscle endurance, muscle exercise, myography, near infrared spectroscopy, O'Connor P J, oxygen consumption, physical energy, Priority Journal, Schoick R A V, School Child, scoring system, skeletal muscle, Trajectory, Willingham T B