Browse Items (167 total)
- Tags: Trajectory
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
Tags: 2006, Adams H, batten-disease, behavioral problems, characteristics, childhood, Children, De Blieck E A, Developmental Medicine and Child Neurology, Dure L, Epilepsy, impairments, Kwon J, Marshall F J, Mink J W, NCL3, NCL6, Neurosciences & Neurology, Pearce D A, Pediatrics, psychiatric problems, Ramirez-Montealegre D, Rothberg P G, Scale, Symptoms, Trajectory, Validity
Females experience a more severe disease course in batten disease
Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes
Neuropsychological attention deficits in tuberous sclerosis complex (TSC)
Tags: 2009, Adolescent, alertness, American Journal of Medical Genetics Part A, Attention Deficit Disorder with Hyperactivity/psychology, Bolton P F, Case-Control Studies, characteristics, Child, de Vries P J, Female, Gardiner J, Humans, Male, neuropsychological attention deficits, Neuropsychological Tests, Task Performance and Analysis, Trajectory, Tuberous Sclerosis, Tuberous Sclerosis/psychology
Sleep problems and daytime problem behaviours in children with intellectual disability
Tags: 2002, Adolescents, adults, Behavior, breathing difficulties, challenging behavior, characteristics, Children, community-based sample, daytime problem behaviour, de Vries M, Didden R, difficulties, Disorders, disturbance, Education & Educational Research, Genetics & Heredity, handicapped-children, Intellectual Disability, Journal Of Intellectual Disability Research, Korzilius H, Neurology, Neurosciences &, Psychiatry, Rehabilitation, Rett syndrome, severe learning-disabilities, sleep disturbance, sleep problem, Trajectory, Tuberous Sclerosis, urinary incontinence, van Aperlo B, van Overloop C
Level of purposeful hand function as a marker of clinical severity in Rett syndrome
Tags: 2010, Adolescent, Adult, Age Factors, Bebbington A, characteristics, Child, Child Preschool, Cross-sectional Studies, Databases as Topic, Developmental Medicine and Child Neurology, Downs J, Female, Genotype, Ghosh S, Hand, Humans, Jacoby P, Kaufmann W E, Leonard H, Methyl-CpG-Binding Protein 2, Motor Activity, Mutation, Phenotype, Registries, Rett syndrome, Severity Of Illness Index, tone and motor problems, Trajectory, Video Recording, Walking, Williams A, Young Adult
Longitudinal Hand Function in Rett Syndrome
Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome
Tags: 2017, Adolescent, Adult, characteristics, Controlled Study, Cross-sectional Study, Data Base, Developmental Medicine and Child Neurology, Downs J, Female, Hill K, Human, Leonard H, linear regression analysis, Major Clinical Study, Model, Newton N, Quantitative Study, Rett syndrome, scoliosis, Seizure, tone and motor problems, Trajectory, Wakefulness, Walking, Wong K
Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: A prospective 6-year follow-up study
Rett's syndrome: Characterization of respiratory patterns and sleep
Tags: 1987, abnormal respiratory problems, abnormal sleep patterns, Annals Of Neurology, ataxia, Autism, breathing difficulties, Central Nervous System, characteristics, Child, Dementia, Diagnosis, etiology, Frost Jr J D, Glaze D G, heredity, Human, hyperpnea, Major Clinical Study, Percy A K, Priority Journal, Respiratory System, Rett syndrome, Seizure, Sleep, sleep disturbance, Trajectory, Zoghbi H Y
Health and sleep problems in Cornelia de Lange Syndrome: a case control study
Tags: 2008, Adolescent, Arron K, behavioral problems, Case-Control Studies, characteristics, Comorbidity, De Lange syndrome, De Lange Syndrome/epidemiology/psychology, Ear Diseases/epidemiology/psychology, Eye Diseases/epidemiology/psychology, Female, Gastrointestinal Diseases/epidemiology/psychology, Hall S, Health Status, Hernia/epidemiology/psychology, Humans, Intellectual Disability/epidemiology/psychology, Journal Of Intellectual Disability Research, Male, Oliver C, Prevalence, Self-Injurious Behavior/epidemiology/psychology, self-injury, Severity Of Illness Index, Skin Diseases/epidemiology/psychology, sleep disturbance, Sleep Wake Disorders/epidemiology, Sloneem J, Stomatognathic Diseases/epidemiology/psychology, Surveys And Questionnaires, Trajectory
Self-injurious behaviour in young children with Lesch-Nyhan syndrome
Tags: 2001, behavioral problems, characteristics, Child Preschool, Developmental Medicine and Child Neurology, Environment, Extinction Psychological, Hall S, Humans, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/diagnosis/prevention & control, Male, Murphy G, Oliver C, Self-Injurious Behavior/prevention & control, self-injury, Severity Of Illness Index, Sign Language, Trajectory
Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group
Tags: 1993, Browne R H, Buncher C R, characteristics, Child, Child Preschool, facial weakness, Female, Humans, Iannaccone S T, Infant, Male, Motor Skills/physiology, Muscle Contraction/physiology, Neurologic Examination, Pediatric Neurology, Prospective Studies, Range of Motion Articular/physiology, Reflex Stretch/physiology, Samaha F J, SMA1, Spinal Muscular Atrophies of Childhood/diagnosis/physiopathology, Sucking Behavior/physiology, tone and motor problems, tongue fasciculation, Trajectory
Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS)
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
Melatonin, cortisol and body temperature rhythms in Lennox-Gastaut patients with or without circadian rhythm sleep disorders
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
The prevalence and phenomenology of repetitive behavior in genetic syndromes
Tags: 2009, Adolescent, Adult, Angelman Syndrome/epidemiology/psychology, Arron K, behavioral problems, Berg K, Burbidge C, characteristics, Child, Child Preschool, Cri-du-chat, Cri-du-Chat Syndrome/epidemiology/psychology, De Lange syndrome, De Lange Syndrome/epidemiology/psychology, Female, Fragile X Syndrome/epidemiology/psychology, Humans, Intellectual Disability/epidemiology/genetics/psychology, Journal of Autism and Developmental Disorders, London, Male, Middle Aged, Moss J, Oliver C, Phenotype, Prader-Willi Syndrome/epidemiology/psychology, Prevalence, repetitive behavior, Stereotyped Behavior, Surveys And Questionnaires, Syndrome, tone and motor problems, Trajectory, Young Adult
The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome
Tags: 2005, Adolescent Child, Arron K, behavioral problems, characteristics, Child, De Lange syndrome, De Lange Syndrome/ep [Epidemiology], Environment, Female, Hall S, Humans, Journal Of Intellectual Disability Research, Male, Moss J, Oliver C, Petty J, Preschool, Self-Injurious behavior, Self-Injurious Behavior/di [Diagnosis], Self-Injurious Behavior/ep [Epidemiology], Self-Injurious Behavior/px [Psychology], Severity Of Illness Index, Sloneem J, Trajectory
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
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
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 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
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
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
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
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
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
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