Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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
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
Autism traits in children and adolescents with Cornelia de Lange syndrome
Tags: 2014, Aberrant Behavior Checklist, adaptive behavior, Adolescent, Adult, Age, American Journal of Medical Genetics Part A, Article, Autism, behavior disorder, Behavioral phenotype, behavioral problems, characteristics, Checklist, Child, Childhood Autism Rating Scale, Clark B, Clinical Article, Communication, communication disorder, compulsion, Cornelia de Lange syndrome, daily life activity, De Lange syndrome, Diagnosis, Disease Severity, Emotion, Female, Grados M A, Human, hyperactivity, Intellectual Impairment, Interpersonal Communication, Irritability, Kline A D, Landy-Schmitt C, Language, lethargy, limb, maladjustment, Male, Phenotype, Priority Journal, psychological rating scale, Rating Scale, Repetitive behaviors, rigidity, Skill, social cognition, Socialization, Specht M, Srivastava S, stereotypy, Trajectory, Verbal Communication, Vineland Adaptive Behaviors Scales
Fluoroscopically Guided Dilation of Esophageal Strictures in Patients With Dystrophic Epidermolysis Bullosa: Long-Term Results
Tags: 2012, Adam A, American Journal Of Roentgenology, Balloon dilatation, benign esophageal stricture, Children, Dourado R, Dysphagia, dystrophic epidermolysis bullosa, eb, epidermolysis bullosa, Experience, feeding difficulties, fluoroscopically guided balloon dilation, fluoroscopically guided dilation of esophageal strictures, gastronomy tube placement, Gkoutzios P, Krokidis M, Management, Mellerio J, Nutritional Failure, Radiology Nuclear Medicine & Medical Imaging, Sabharwal T, Spiliopoulos S, stenosis, surgical intervention
Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome
Tags: 1993, Adolescent, Adult, American Journal Of Medical Genetics, characteristics, Child, De Lange syndrome, De Lange Syndrome/co [Complications], De Lange Syndrome/complications, Esophagitis/co [Complications], Esophagitis/complications/prevention & control, Esophagitis/pc [Prevention & Control], feeding difficulties, Gastroesophageal Reflux, Gastroesophageal Reflux/co [Complications], Gastroesophageal Reflux/complications, GERD, Humans, Infant, NET Files, Posture, Sandifer complex, Sommer A, Spasm/co [Complications], Spasm/complications, Torticollis/co [Complications], Torticollis/complications, 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
Comparative Effects of Bilateral Hand Splints and an Elbow Orthosis on Stereotypic Hand Movements and Toy Play In 2 Children with Rett Syndrome
Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale
Tags: 2015, Ahmed A, amygdala volume, Autism, Behavior phenotype, Behavior Rating Scale, behavioral problems, characteristics, Delaney K A, Endocrinology & Metabolism, Genetics & Heredity, Haslett P A J, kluver, Management, Medicine, Molecular Genetics and Metabolism, MPSIII, mucopolysaccharidosis type iiia, Nestrasil I, Potegal M, Research & Experimental, Rudser K R, Rumsey R K, Sanfilippo syndrome, Shapiro E G, Trajectory, Wey A, Whitley C B
Disorders of Upper Limb Movements in Ataxia-Telangiectasia
Tags: 2013, abnormal involuntary movements, accelerometry, Adolescent, Adult, Age Factors, ataxia telangiectasia, Ataxia Telangiectasia/pp [Physiopathology], Biomechanical Phenomena, characteristics, Child, Child Preschool, Crawford T O, Cross-sectional Studies, Female, Humans, kinetic tremor, Lederman H M, Male, Mandir A S, Motor Activity, Motor Activity/ph [Physiology], Movement, Movement Disorders/pp [Physiopathology], Movement/ph [Physiology], Periodicity, PLoS One, postural tremor, Posture/ph [Physiology], resting tremor, Severity Of Illness Index, Shaikh A G, tone and motor problems, Trajectory, Tremor/pp [Physiopathology], Upper Extremity, Upper Extremity/pp [Physiopathology], Young Adult, Zee D S
Otorhinolaryngological, Audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C
Tags: 2016, Adolescent, Aksoy S, Akyol U, Article, aspiration scale, auditory response, Balance disorders, body equilibrium, characteristics, Child, Clinical Article, Controlled Study, Demir N, Dysphagia, Endoscopy, feeding difficulties, Female, Flexible endoscopy, hearing, hearing impairment, Hearing problems, Human, International Journal of Pediatric Otorhinolaryngology, Kuscu O, Male, Niemann Pick disease/di [Diagnosis], Niemann-Pick Disease, NPC, Otorhinolaryngology, penetration, postural imbalance, Preschool Child, Priority Journal, Prospective Study, pure tone audiometry, School Child, Senirli R T, stabilography, Swallowing, Swallowing disorders, tone and motor problems, Topcu M, Trajectory, vestibular system, Yigit O
Respiratory complications of mucopolysaccharide storage disorders
Tags: 1988, adenoidectomy, Adolescent, Adult, Airway Obstruction/et [Etiology], Anesthesia General/ae [Adverse Effects], beta adrenergic blockers, breathing difficulties, calcium antagonists, Cardiovascular Diseases/et [Etiology], Child, Child Preschool, digoxin, diuretics, Female, Humans, Infant, Intubation Intratracheal/ae [Adverse Effects], Lung Diseases/et [Etiology], Lung Diseases/pp [Physiopathology], Male, Medicine, MLII, MLIII, MPSI, MPSII, MPSVI, Mucopolysaccharidoses/co [Complications], Mucopolysaccharidoses/mo [Mortality], Mucopolysaccharidoses/pp [Physiopathology], pharmacologic interventions, Pyeritz R E, respiratory problems, Respiratory Tract Diseases/et [Etiology], Respiratory Tract Diseases/pp [Physiopathology], Respiratory Tract Diseases/ra [Radiography], Retrospective Studies, Semenza G L, Sleep Apnea Syndromes/et [Etiology], Spinal Diseases/et [Etiology], Spinal Diseases/ra [Radiography], surgical interventions, theophylline, Tonsillectomy, Tracheostomy
Efficacy and tolerance of gastrostomy feeding in pediatric forms of neuromuscular diseases
Tags: 2002, Adolescent, Adult, Child, Child Preschool, Cuisset J, Devos P, Enteral Nutrition, feeding difficulties, Female, Follow-up Studies, Gastroesophageal Reflux, Gastroesophageal Reflux/complications, Gastrostomy, GERD, Gottrand F, Guimber D, Humans, Infant, Infant Newborn, Journal Of Parenteral And Enteral Nutrition, Male, Michaud L, Neuromuscular Diseases/complications/therapy, Nutritional Status, Percutaneous Endoscopic Gastrostomy, Seguy D, SMA type I, surgical intervention, Treatment Outcome, Turck D, Weight Gain
Behavioral aspects of Lesch-Nyhan disease and its variants
Tags: 2005, Adolescent, Adult, Aggression, alertness, anxiety, behavioral problems, characteristics, Child, Depression, Developmental Medicine and Child Neurology, distractibility, Female, Harris J C, Humans, Jinnah H A, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/px [Psychology], Male, Meyer S M, Nyhan W L, Puig J G, Schretlen D J, Self-Injurious behavior, self-injury, Severity Of Illness Index, Trajectory, Ward J, Yun J
Polysomnographic recordings of respiratory disturbances in Rett syndrome
Tags: 1995, Adolescent, Aguigah G, Aksu F, apnea, breathing difficulties, Buschatz D, Case Report, characteristics, Conference Paper, Disorder of respiratory control, Female, Human, hyperventilation, hypocapnia, Journal of Sleep Research, Polygraphic recording, Polysomnography, Priority Journal, Respiratory Tract Disease, Rett syndrome, Rett Syndrome/di [Diagnosis], Schluter B, School Child, Trajectory, Trowitzsch E
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1
Tags: 2 hydroxypropyl beta cyclodextrin, 2018, 94035-02-6 (2 hydroxypropyl beta cyclodextrin), Adolescent, Adult, Alter K, Article, balance impairment, body equilibrium, case control study, characteristics, Child, Clinical Article, clinical evaluation, Comparative Study, coordination disorder, disease severity assessment, Farhat N, Female, gait disorder, Human, Human Development, intervention study, Journal of Child Neurology, Keener L A, Male, molecular stability, motion analysis system, Neurologic Examination, Niemann Pick disease, NIH NPC Neurologic Severity Scale, NPC, outcome assessment, performance, Porter F, Preschool Child, Priority Journal, Research, Retrospective Study, Sansare A, School Child, scoring system, spatiotemporal analysis, stabilography, Stanley C, tone and motor problems, Trajectory, Upper limb, vts 270, Young Adult, Zampieri C
Reliability of home-based, motor function measure in hereditary neuromuscular diseases
Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study
Tags: 2002, Adolescent, Child, Child Preschool, Davies P, Developmental Disabilities, Developmental Disabilities/complications, Developmental Medicine and Child Neurology, Dose-Response Relationship Drug, Epilepsy, Epilepsy/complications, Female, Humans, Infant, Lennox-Gastaut syndrome, Leukodystrophy, Male, Medical Records, melatonin, Melatonin/therapeutic use, MPSII, MPSIII, Nervous System Diseases, Nervous System Diseases/complications, Outpatients, pharmacologic intervention, Q3 Scoping Review Results, Ross C, Sex Factors, Sleep Disorders/complications/drug therapy, sleep disturbance/disorders, Sleep Wake Disorders, Vision Disorders, Vision Disorders/complications, Whitehouse W
Gross motor abilities in children with Hurler syndrome
The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: part I: development and provisional clinical reference data
Tags: 2012, Adolescent, Adult, Aged, Aged 80 and over, Aggression/psychology, Attention Deficit and Disruptive Behavior, behavioral problems, Child, Child Preschool, Didden R, Disorders/diagnosis/epidemiology/psychology, Dumont E L, Female, Hastings R, Humans, Intellectual Disability/diagnosis/epidemiology/psychology, Journal Of Intellectual Disability Research, Kroes D B, Male, Matson J L, Middle Aged, Multivariate Analysis, Personality Inventory/standards/statistics & numerical data, Prevalence, Reference Values, Rojahn J, Rowe E W, scale development, Self-Injurious Behavior/diagnosis/epidemiology/psychology, Sensitivity and Specificity, Sharber A C, Stereotypic Movement Disorder/diagnosis/epidemiology/psychology, tool development, unspecified ID, Young Adult
The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: Part II: reliability and validity
Tags: 2012, autism spectrum disorders, Behavior Problems Inventory, behavioral problems, Checklist, Children, Developmental-disabilities, diagnostic-assessment, Didden R, Disabilities, Dumont E L M, Education & Educational Research, factor structure, fit indexes, Genetics & Heredity, handicapped dash, Hastings R, intellectual, Journal Of Intellectual Disability Research, Kroes D B H, Matson J L, Neurology, Neurosciences &, profound mental-retardation, Psychiatry, rating form, Rehabilitation, Reliability, Rojahn J, Rowe E W, scale development, severely, Sharber A C, tool development, unspecified ID, VALIDATION, Validity
Behavior Problems in Individuals with Cornelia de Lange Syndrome: Population-Specific Validation of the Behavior Problem Inventory-01
Tags: 2013, Abby L, Aggressive/destructive behavior, Barnard-Brak L, Behavior, behavioral problems, behaviors, characteristics, Cornelia de Lange syndrome, De Lange syndrome, delange-syndrome, Dotson W, Intellectual disabilities, Journal of Developmental and Physical Disabilities, Medeiros K, Phenomenology, Prevalence, Rehabilitation, Reliability, repetitive, Richman D, Rojahn J, Scale, Self-injurious, self-injurious-behavior, short form, Stereotyped Behavior, Trajectory, Validity, Wei T L
Disturbances in cardiorespiratory function during day and night in Rett syndrome
Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease
Tags: 2003, Adolescent, Adult, Anticonvulsants/therapeutic use, Barabas G, behavioral problems, Carbamazepine/therapeutic use, characteristics, Child, Child Preschool, Chromosomes Human X/genetics, Developmental Medicine and Child Neurology, Diazepam/therapeutic use, Eddey G E, Female, Giacomini K D, Humans, Infant, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/genetics, Male, Reck J F, Robey K L, Self-Injurious Behavior/diagnosis/drug therapy, self-injury, Surveys And Questionnaires, Trajectory
Insomnia in Cornelia de Lange Syndrome
Tags: 2012, Benke J R, Boss E F, characteristics, Cornelia de Lange syndrome, De Lange syndrome, insomnia, International Journal of Pediatric Otorhinolaryngology, Ishman S L, Kimball A, Kline A D, Levy H P, melatonin, Mettel T L, Otorhinolaryngology, Pediatrics, Rajan R, Sleep, sleep disturbance, sleep disturbance/disorders, Sleepiness, smith-magenis-syndrome, Trajectory
Guided eating or feeding: three girls with Rett syndrome
Tags: 2009, Activity, being fed, Children, dyspraxia, Eliasson A C, engagement, Engerstrom I W, guided eating, hand function, hand splints, hand use, involvement, movements, Occupational Therapy, Participation, psychological intervention, Qvarfordt I, Rehabilitation, Rett syndrome, Scandinavian Journal of Occupational Therapy, skills, stereotyped hand movements, tone and motor problems
Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes
Rett syndrome: A preliminary analysis of stereotypy, stress, and negative affect
Dyspnea in Children with Life-Threatening and Life-Limiting Complex Chronic Conditions
Aberrant sleep patterns in children with the Rett syndrome
Tags: 1990, Adolescence, Adolescent, Adult, Aging, Bowman L, Brain and Development, characteristics, Child, Child Preschool, Female, Fisher W, Human, Humans, Infant, Kiesewetter K, Moser H, NET Files, Piazza C C, Rett syndrome, Rett Syndrome/co [Complications], Rett Syndrome/complications/drug therapy, Rett Syndrome/dt [Drug Therapy], Sleep Disorders/co [Complications], sleep disturbance/disorders, Sleep Stages/ph [Physiology], Sleep Stages/physiology, Sleep Wake Disorders/complications, Trajectory
TEACHING SELF-FEEDING SKILLS TO PATIENTS WITH RETT-SYNDROME
Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment
Tags: 2004, Antioxidants/therapeutic use, Appleton R E, Brain/physiopathology, Child, Developmental Disabilities/drug therapy/epidemiology/physiopathology, Developmental Medicine and Child Neurology, Humans, melatonin, Melatonin/therapeutic use, pharmacologic intervention, Phillips L, Rett syndrome, sleep disturbance/disorders, Sleep Wake Disorders/epidemiology, Wakefulness/physiology
Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration
Tags: 2001, Adolescent, Age Factors, Brain, Brain and Development, characteristics, Child, Child Preschool, Christodoulou J, Cohort Studies, Ellaway C, Epilepsy, Female, Humans, Leonard H, Movement Disorders, Peat J, Rett syndrome, Sleep, sleep disturbance/disorders, Sleep Wake Disorders, Trajectory
Health-related quality of life in children with Friedreich ataxia
Tags: 2010, Adolescent Child Female, alertness, Fatigue, Friedman L S, Friedreich ataxia, Friedreich Ataxia/pp [Physiopathology], Friedreich Ataxia/px [Psychology], Health Status, Humans, Lynch D R, Male, Myers L M, Paulsen E K, Pediatric Neurology, Quality Of Life/px [psychology], scale development, tool development
Fatigue and depression in children with demyelinating disorders
Tags: 2013, acquired demyelinating syndromes, acute disseminated encephalomyelitis, Adolescent, alertness, Article, Benedict R H B, Canada, characteristics, Child, Child Behavior, Childhood Disease, Clinical Article, Cohort Analysis, Comorbidity, Controlled Study, Cross-sectional Study, demyelinating disease, demyelinating disorders, Depression, disease duration, Epidemiology, Fatigue, Female, Health Survey, Human, Journal of Child Neurology, Male, Mood, Multiple Sclerosis, Parrish J B, Priority Journal, psychological aspect, School Child, Self Report, Sleep, Smerbeck A, Therapy, Trajectory, Weinstock-Guttman B, Yeh E A
Long-term clinical outcome of internal globus pallidus deep brain stimulation for dystonia
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
The Association Between Repetitive, Self-Injurious and Aggressive Behavior in Children With Severe Intellectual Disability
Tags: 2012, adults, Aggression, Autism spectrum disorder, Bacarese-Hamilton M, behavioral problems, challenging behavior, challenging behaviors, characteristics, de-lange-syndrome, handicap, high frequency repetitive behavior, Intellectual Disability, Journal of Autism and Developmental Disorders, learning-disabilities, Mental, Oliver C, People, Petty J, Prevalence, Psychology, psychotropic medication, repetitive behavior, risk-factors, ritualistic behavior, Ruddick L, self-injury, severe intellectual disability, Stereotyped Behavior, total population, Trajectory, young-children
Behavioural phenotype of Cornelia de Lange syndrome: case-control study
Tags: 2008, Adolescent, Adult, Arron K, Autistic Disorder/psychology, behavioral problems, Case-Control Studies, characteristics, Child, Child Preschool, Communication Disorders/psychology, Compulsive Behavior/psychology, De Lange syndrome, De Lange Syndrome/psychology, Female, global behavior disorder, Hall S, Humans, Male, Oliver C, Phenotype, Sloneem J, Surveys And Questionnaires, The British Journal of Psychiatry, Trajectory, Young Adult
Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
Tags: 2006, American Journal on Mental Retardation, Arron K, assessments, behavioral problems, brachmann-delange syndrome, Children, Communication, De Lange syndrome, Education & Educational Research, evaluate aberrant behavior, Forman D, functional-analysis, Hall S, McClintock K, mutilative behavior, Oliver C, Phenotype, Rehabilitation, self injurious behavior, self-injury, skills, Sloneem J, trajectory characteristics