Browse Items (167 total)
- Tags: Trajectory
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 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 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 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
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
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
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
Behavior in preschool children with the 22q11.2 deletion syndrome
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
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
Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study
Tags: 2007, 22q11.2 Deletion Syndrome, Abnormalities Multiple/genetics/pathology/psychology, American Journal of Medical Genetics Part A, Beemer F A, behavioral problems, Case-Control Studies, characteristics, Child, Child Behavior Disorders/psychology, Chromosome Deletion, Chromosomes Human Pair 22, Craniofacial Abnormalities/psychology, Duijff S N, Female, Heineman-de B J A, Humans, Intelligence, Jansen P W, Klaassen P W, Male, Morcus M E, Psychometrics/methods, Reproducibility of Results, Syndrome, Trajectory, Vorstman J A
Behaviour in Cornelia de Lange syndrome: a systematic review
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Tags: 2016, alertness, Baric I, Baumgartner M R, behavioral problems, bowel incontinence, Burgard P, characteristics, Child Preschool, emotional problems, Emotions, feeding difficulties, Female, Garcia-Cazorla A, Glahn E M, Gleich F, Haege G, Humans, Intellectual Disability/etiology/metabolism, Jamiolkowski D, Journal Of Inherited Metabolic Disease, Kolker S, Male, Mental Disorders/etiology/metabolism, Metabolic Diseases/complications/metabolism, Metabolism Inborn Errors/complications/metabolism, Muhlhausen C, Ornithine Carbamoyltransferase Deficiency Disease/complications/metabolism, Quality Of Life, sleep disturbance, Trajectory, Urea Cycle Disorders Inborn/complications/metabolism, urinary incontinence, Zeman J
Behavioural phenotype of Cornelia de Lange syndrome
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
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders
Tags: 2013, annotation, Behavior, challenging behavior, characteristics, Children, clinical variability, Cross E M, Endocrinology & Metabolism, Genetics & Heredity, Hare D J, hunters, Journal Of Inherited Metabolic Disease, Medicine, mental-retardation, mild, MPSI, MPSII, MPSIIIA, MPSIIIB, Research & Experimental, sanfilippo b-disease, sleep disturbance, Syndrome, tone and motor problems, Trajectory
Breathing abnormalities in sleep in achondroplasia
Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period
Tags: 2011, Adolescent, Adult, Age Factors, Arginine/genetics, Australia, Bebbington A, characteristics, Disease Progression, Downs J, Female, Foley K R, Girdler S, Humans, Jacoby P, Journal of Child Neurology, Kaufmann W E, Leonard H, Linear Models, Longitudinal Studies, Methyl-CpG-Binding Protein 2/genetics, Motor Skills/physiology, Movement Disorders/etiology/genetics, Mutation/genetics, Retrospective Studies, Rett syndrome, Rett Syndrome/complications/genetics, tone and motor problems, Trajectory, Young Adult
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
Tags: 2001, abnormal respiratory rhythm, Al-Rawas S, angiotensin-ii, Apartopoulos F, Archives of Disease in Childhood, autonomic system, brain stem, breathing difficulties, characteristics, component, Dysautonomia, Engerstrom I W, Engerstrom L, Hansen S, hyperventilation, immaturity, Jamal G A, Julu P O O, Kerr A M, Neurons, nucleus-tractus-solitarii, Pediatrics, protein-2, real-time, reflexes, Rett disorder, Rett syndrome, Trajectory, vagal tone
Characterization of sleep disturbance in Cornelia de Lange Syndrome
Tags: 2011, breathing difficulties, characteristics, Cornelia de Lange syndrome, De Lange syndrome, International Journal of Pediatric Otorhinolaryngology, Ishman S L, Kimball A, Kline A D, Levy H P, Mettel T L, Sleep disordered breathing, sleep disturbance, Sleepiness, snoring, Stavinoha Rose C, Trajectory