Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
A comparison of three measures of upper limb function in Friedreich ataxia
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type i
Tags: 2015, Adolescent, Adult, Article, Barry Albright Dystonia Scale, Boy N, Burgard P, characteristics, Child, Clinical Article, Cognition, cognitive development, continuous performance test, Controlled Study, Cross Sectional Study, Dystonia, dystonia/di [Diagnosis], enzyme deficiency, Female, Garbade S F, Glahn E M, Glutaric acidemia type I, glutaric aciduria type I, Haege G, Heringer J, Hoffmann G F, Human, Information Processing, Kolker S, Male, Metabolic Disorder, motor dysfunction, motor performance, neurologic disease assessment, newborn screening, Orphanet Journal Of Rare Diseases, response time, tone and motor problems, Trajectory, visual memory, visuomotor coordination, working memory
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome
Tags: 2011, Adolescent, adults, behavioral problems, behaviour, Chappaz I O, characteristics, Child, Cri-du-chat, cri-du-chat syndrome, development, Education & Educational Research, Emerich D R, Epidemiology, Gatto K R, Genetics & Heredity, INDIVIDUALS, Journal Of Intellectual Disability Research, Kim C A, maladaptive behaviors, Neurology, Neurosciences &, Orsati F T, Prevalence, Psychiatry, Rehabilitation, Rimerio R C, Teixeira Mctv, Trajectory
A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
A Longitudinal Follow-Up Study of Affect in Children and Adults With Cornelia de Lange Syndrome
Tags: 2014, Affect, American Journal on Intellectual and Developmental Disabilities, autistic, Behavior, behavioral phenotypes, behavioral problems, behavioral-phenotype, characteristics, Cornelia de Lange syndrome, Cri-du-chat, De Lange syndrome, delange-syndrome, Education & Educational Research, Follow-up, fragile-x-syndrome, genetic syndromes, genotype-phenotype correlations, interest, Longitudinal, mental-retardation, Mood, Moss J, Nelson L, Oliver C, PERVASIVE DEVELOPMENTAL DISORDERS, pleasure, Rehabilitation, spectrum disorders, Trajectory, williams-syndrome
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
Tags: 2006, Child Preschool, Contracture/di [Diagnosis], Contracture/pp [Physiopathology], Crawford T O, Disability Evaluation, HFMS, Humans, Infant, Krosschell K J, Maczulski J A, Male, Neuromuscular Disorders, Observer Variation, Reproducibility of Results, scale development, Scott C, Severity Of Illness Index, SMA1, Spinal Muscular Atrophies of Childhood/di [Diagnosis], Spinal Muscular Atrophies of Childhood/pp [Physiopathology], Swoboda K J, tone and motor problems, tool development, Videotape Recording
A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health
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
A national survey of Rett syndrome: behavioural characteristics
Tags: 2015, anxiety, Behavior, breathing difficulties, breathing problems, characteristics, Cianfaglione R, Clarke A, Felce D, hand stereotypies, Hastings R P, Heald M, inappropriate fear, Journal of Neurodevelopmental Disorders, Kerr M, Moss J, Oliver C, Rett syndrome, sleep problems, stereotypy, tone and motor problems, Trajectory
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
Tags: 2012, ataxia, ataxia telangectasia, betamethasone, Betti G, Brusco A, Buoni S, Chessa L, Finocchi A, Fois A, Hayek J, Kelly C, Leuzzi V, Martino S, Micheli R, Misiani F, Movement Disorders, pharmacologic intervention, Pietrogrande M C, Plebani A, Rossi L N, Salvucci S, Soresina A, tone and motor problems, Zannolli R
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome
A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome
Tags: 2002, Adolescent, Adult, Aggression, Aggression/psychology, Behavior, characteristics, Child, Collins M S, Comorbidity, Cornish K, Cri-du-chat, Cri-du-Chat Syndrome/epidemiology, Female, Humans, Journal Of Intellectual Disability Research, Male, Prevalence, Self-Injurious Behavior/epidemiology, self-injury, Stereotypic Movement Disorder/epidemiology, stereotypy, Surveys And Questionnaires, tone and motor problems, Trajectory
A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease
Tags: 2017, Adolescent, Adult, Article, auditory hallucination, CAG repeat, characteristics, Child, Clinical Article, Controlled Study, Epping E, Espe-Pfeifer P, Female, Health Survey, Hudgell D, Human, Huntington chorea, juvenile, Juvenile Huntington disease, leg pain, Male, Martin E, Mathews K, Moser A D, Nance M, Neurodegenerative Disease Management, Nopoulos P, Pain, Priority Journal, pruritus, psychosis, Quarrell O, skin irritation, sleep disorder, sleep disturbance/disorders, tic, Trajectory, visual hallucination, Zhorne L
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica
Tags: 2015, Adolescent, Boschin M, Child, Child Preschool, Combined Modality Therapy, Dilatation/methods, Endoscopy, epidermolysis bullosa, Epidermolysis Bullosa Dystrophica/complications, Esophageal Stenosis/etiology/therapy, feeding difficulties, Female, Follow-up Studies, Frosch M, Gastrostomy, Gottschalk A, growth improvement, Hahnenkamp K, Humans, Infant, Laukoetter M, Male, Mennigen R, Nutrition, orthograde balloon dilation, Recurrence, retrograde dilation, Senninger N, surgical intervention, Treatment Outcome, Tubergen D, Vowinkel T
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
Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)
Tags: 2015, Actigraphy, autistic spectrum disorders, Bigger B, Canal M, characteristics, circadian rhythms, CONTROLLED-TRIAL, disturbance, Hare D J, Intellectual Disability, Jones S, Journal of Neurodevelopmental Disorders, Light, Mahon L V, melatonin, MPSIIIA, MPSIIIB, Mucopolysaccharidosis type III, Multiple disabilities, Mumford R A, Neurosciences & Neurology, Rare Disease, Sanfilippo, Sleep, sleep disturbance/disorders, sleep problems, smith-magenis-syndrome, Therapy, Trajectory
Adaptive and maladaptive behaviour in children with Cri-du-chat syndrome
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome
Tags: 2012, Adolescent, Adult, Age, Aggression, aggressive behavior, anxiety, Behavior, behavioral problems, characteristics, Child, Congenital Anomalies, Depression, Factors, Female, Humans, Infant, Kosaki K, Kosaki R, Kurosawa K, Male, Mizuno S, Okamoto N, Preschool, Rubinstein-Taybi Syndrome, Rubinstein-Taybi Syndrome/di [Diagnosis], Sato Y, Surveys And Questionnaires, Takahashi T, Trajectory, Yagihashi T, Young Adult
Air swallowing in Rett syndrome
Tags: 2000, Adolescent, Adult, Aerophagy/di [Diagnosis], Aerophagy/pp [Physiopathology], Aerophagy/px [Psychology], air bloat, Apnea/di [Diagnosis], Apnea/pp [Physiopathology], Apnea/px [Psychology], Child, Child Preschool, Developmental Medicine and Child Neurology, Ellis R E, Feeding Behavior/ph [Physiology], feeding difficulties, Female, Fluoroscopy, gum shield, hollow tube, Humans, hyperventilation, Larynx/pp [Physiopathology], Morton R E, palatal training devices, physical intervention, Pinnington L, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/pp [Physiopathology], Rett Syndrome/px [Psychology], Risk Factors, Stress Psychological/co [Complications], Video Recording
An analogue assessment of repetitive hand behaviours in girls and young women with Rett syndrome
An evaluation of rating scales utilized for deep brain stimulation for dystonia
Tags: 2010, cervical dystonia, deep brain stimulation, Dystonia, electrical-stimulation, Foote K D, globus pallidus internus, globus-pallidus internus, Jacobson C E, Journal Of Neurology, Malaty I A, Mishra M, movement-disorders, Neurosciences & Neurology, Okun M S, Outcome, pallidotomy, primary generalized dystonia, Q3 conditions, Rating, Rodriguez R L, scale development, scales, secondary dystonia, segmental dystonia, Sun A Q, surgical intervention, Susatia F, term-follow-up, tone and motor problems, tool development, torsion dystonia, ul Haq I, unspecified Q3 conditions, Wu S S, Zeilman P R
An investigation of the middle and latebehavioural phenotypes of Mucopolysaccharidosis Type-III
Tags: 2014, behavioral problems, Bigger B W, Canada Government of Canada National Research Council, challenging behaviors, characteristics, Cross E M, digital collections, electronic information, Grant S, Hare D J, Health Sciences, Information Dissemination, Jones S, Journal of Neurodevelopmental Disorders, Life Sciences, Lomax M, Mahon L V, Medical Research, MPS III, scientific information, Trajectory, Wraith J E
Anti-parkinson drugs in the Batten-Spielmeyer-Vogt syndrome; a pilot trial
Tags: 1982, Adolescent, Adult, amantadine, Amantadine/therapeutic use, Antiparkinson Agents/therapeutic use, Benserazide/therapeutic use, Clinical Neurology and Neurosurgery, Drug Combinations/therapeutic use, Humans, Levodopa/therapeutic use, Lipidoses/drug therapy, madopar, NCL3, orfenadrine, pharmacologic intervention, Psychoses Substance-Induced/etiology, Syndrome, tone and motor problems, van der Zee H J, van Nieuwenhuizen O, Zweije-Hofman I L
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
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia
Tags: 2016, ataxia telangectasia, cerebral-palsy, characteristics, Crawford T O, Developmental Medicine and Child Neurology, Disease, dynamics, Dysphagia, expiratory patterns of peri-deglutitive airflow, feeding difficulties, He X M, Lederman H M, Lefton-Greif M A, Management, neurodegeneration, Neurosciences & Neurology, Patterns, Pediatrics, Perlman A L, pharyngeal, Trajectory
Assessment of sleep in children with mucopolysaccharidosis type III
Tags: 2014, Actigraphy, Adolescent, Bigger B, Canal M, Case-Control Studies, characteristics, Child, Cross E, Female, Grant S, Hare D J, Humans, JL5DK93RCL (Melatonin), Jones S, Langford-Smith K, Lomax M, Mahon L V, Male, Melatonin/me [Metabolism], MPSIIIA, MPSIIIB, Mucopolysaccharidosis III/pp [Physiopathology], PLoS One, Preschool, sleep disturbance/disorders, Sleep/ph [Physiology], Time Factors, Trajectory, Wraith J E
Association Between Fatigue and Autistic Symptoms in Children With Cri du Chat Syndrome
Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome
Attention and communication in Rett Syndrome
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
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Tags: 2017, abdominal bloating, Adult, Article, autonomic dysfunction, bloating, breath holding, breath-holding, breathing difficulties, breathing disorder, Breathing disorders, breathing pattern, Caregiver, characteristics, Child, Data Base, Developmental Disability, Downs J, Epstein A, Female, Genotype, Heyworth J, Human, hyperventilation, International database, Journal of Neurodevelopmental Disorders, Leonard H, MacKay J, Male, mecp2, Mutation, Noninvasive Ventilation, onset age, oxygen, Priority Journal, Questionnaire, Rare disorder, rebreathing, Rett syndrome, School Child, Trajectory, Wong K
Autonomic Dysregulation in Young Girls With Rett Syndrome During Nighttime in-Home Recordings
Tags: 2008, autonomic dysregulation, Bennett H L, Boothby C M, breathing difficulties, cardiorespiratory dysregulation, characteristics, Disorder, disturbances, dysfunction, hyperventilation, increased breathing frequency, irregular breathing, Kenny A S, Lieske S P, mecp2 mutations, Mice, nervous-system, Patterns, Pediatric Pulmonology, Pediatrics, Ramirez J M, Respiratory System, Rett syndrome, Trajectory, Weese-Mayer D E
Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
Tags: 2006, Bennett H L, Boothby C M, breathing difficulties, characteristics, Disorder, dysfunction, explanation, hyperventilation, increased breathing frequency, increased mean airflow increased hear rate, irregular breathing, Kenny A S, Lieske S P, long qt syndrome, mecp2, mutations, Patterns, Pediatric Research, Pediatrics, Ramirez J M, Rett syndrome, Silvestri J M, sudden-death, Trajectory, Weese-Mayer D E
Balloon dilatation in esophageal strictures in epidermolysis bullosa and the role of anesthesia
Tags: 2017, Adolescent, Adult, Anesthesia, Article, Ates U, Balloon dilatation, Can O S, Child, Clinical Article, Clinical Effectiveness, colon interposition, digestive endoscope, Dindar H, Diseases of the Esophagus, Dysphagia, endoscopic balloon dilatation, epidermolysis bullosa, Ergun E, esophagus balloon, esophagus perforation, esophagus stenosis/co [Complication], esophagus stenosis/th [Therapy], feeding difficulties, Female, Gastrostomy, Gollu G, Human, Male, Patient Safety, Preschool Child, Priority Journal, Retrospective Study, School Child, surgical intervention, Young Adult
Behavior in preschool children with the 22q11.2 deletion syndrome
Behavior management of feeding disturbances in urea cycle and organic acid disorders
Tags: 1987, argininosuccinate kyase deficiency, Batshaw M L, feeding difficulties, guidance techniques, Hyman S L, Iwata B A, Journal of Pediatrics, Kissel R, MCM deficiency, ornithine carbamoyltransferase deficiency disease, Page T J, Pediatrics, Porter C A, positive reinforcement, propionic acidemia, psychological intervention
Behavior problems in children with tuberous sclerosis complex and parental stress
Tags: 2008, Adolescents, Attention, Autism, Autism spectrum disorder, behavioral problems, Behavioral Sciences, Cancer, characteristics, diagnostic-criteria, Disorders, Epilepsy, Epilepsy and Behavior, Families, frequency, hyperactivity, infantile spasms, Kopp C M C, Mental, methylphenidate, mixed seizure disorder, Muzykewicz D A, Neurosciences & Neurology, parenting stress, Population, Psychiatry, Pulsifer M B, retardation, Seizure, Staley B A, Thiele E A, Trajectory, tsc1, Tuberous Sclerosis, Tuberous sclerosis complex
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
Behavioral and temperamental features of children with Costello syndrome
Tags: 2006, Abnormalities Multiple/ge [Genetics], Abnormalities Multiple/pa [Pathology], Abnormalities Multiple/px [Psychology], Aggression/px [Psychology], American Journal of Medical Genetics Part A, Arveiler B, behavioral problems, Bouvard M, characteristics, Child, Child Preschool, Child Behavior, costello syndrome, Delrue M A, Developmental Disabilities/pa [Pathology], Etchegoyhen K, Face/ab [Abnormalities], Female, Galera C, Goizet C, Growth Disorders/pa [Pathology], Humans, internalizing problems, Juvenile Delinquency/px [Psychology], Lacombe D, Linear Models, Male, Philip N, Shyness, Sigaudy S, Syndrome, Taupiac E, Temperament, Trajectory