Browse Items (167 total)
- Tags: Trajectory
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
Behavioural phenotype of Cornelia de Lange syndrome
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
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
Sleep disorders in tuberous sclerosis: a polysomnographic study
Feeding changes in children with trisomy 18: longitudinal data on primary feeding method and reflux identification and treatment
Comparison of three clinical rating scales in Friedreich ataxia (FRDA)
Tags: 2009, ataxia, Boesch S, Bürk K, characteristics, Degen I, Dimitriadis K, Dörr J M, Friedreich's ataxia, Haug V, Heck S, Hering S, Ivo A, Klockgether T, Klopstock T, Kruse B, Lindig T M, Mälzig U, Movement Disorders, Ratzka S, Schmitz-Hübsch T, Schols L, Schulz J B, Timmann D, tone and motor problems, Trajectory, Wolf S
Polysomnographic findings in Rett syndrome: a case-control study
Tags: 2013, Bravaccio C, breathing difficulties, Carotenuto M, Case-Control Studies, Cerebral Cortex, characteristics, Child, D'Aniello A, Elia M, Esposito M, Female, Humans, obstructive apnea, Pascotto A, periodic limb movement, Polysomnography, Precenzano F, Reference Values, Rett syndrome, Rippa C D, Signal Processing Computer-Assisted, Sleep, Sleep REM, Sleep & Breathing, sleep disturbance, tone and motor problems, Trajectory, Wakefulness
Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database
Tags: 2010, Bebbington A, Behavior, Carter P, characteristics, Downs J, features, females, Genotype, hand function, hand stereotypies, Jacoby P, Kaufmann W E, Leonard H, mecp2 mutations, Movement Disorders, Neurosciences & Neurology, Phenotype, Rett syndrome, severity, stereotypic movement disorder, tone and motor problems, Trajectory, Video Recording, Williams S
Findings from a multidisciplinary clinical case series of females with Rett 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
Direct Observation of the Behaviour of Females with Rett Syndrome
Association Between Fatigue and Autistic Symptoms in Children With Cri du Chat 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
Increased prevalence of sleep-disordered breathing in Friedreich ataxia
A comparison of three measures of upper limb function in Friedreich ataxia
Adaptive and maladaptive behaviour in children with Cri-du-chat syndrome
Developmental and behavioural characteristics of cri du chat syndrome
Tags: 1996, Archives of Disease in Childhood, Behavior, bowel incontinence, characteristics, clumsiness, Cornish K M, Cri-du-chat, feeding difficulties, obsessive attachment to objects, Pigram J, repetitive movements, self-injury, sound hypersensitivity, tone and motor problems, Trajectory, urinary incontinence
Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia
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
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
Orthopedic manifestations and implications for individuals with Costello syndrome
Gross motor profile in rett syndrome as determined by video analysis
Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome
Tags: 1997, Adjustment Disorders/etiology, Adolescent, Adult, Aggression, Analysis of Variance, behavioral problems, characteristics, Child, Child Preschool, Child Behavior Disorders/etiology, Clarke D J, Cri-du-chat, Cri-du-Chat Syndrome/genetics/psychology, Developmental Medicine and Child Neurology, Dykens E M, Female, Gene Deletion, Humans, hyperactivity, impulsivity, Intellectual Disability/psychology, low mood, Male, Mental Disorders/etiology, Mood, pain behaviors, Psychiatric Status Rating Scales, repetitive language use, Risk Factors, self-injury, Surveys And Questionnaires, Trajectory, Translocation Genetic
Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers
Tags: 2014, Aggression, ASD, autism spectrum disorders, behavioral problems, challenging behavior, characteristics, cognitive impairments, De Lange syndrome, de Vries P J, de-lange-syndrome, Developmental-disabilities, early-childhood, Eden K E, functional-analysis, hyperactivity, impulsivity, Intellectual disabilities, Journal of Neurodevelopmental Disorders, low mood, Mood, Moss J, Neurosciences & Neurology, Oliver C, Pain, pain behaviors, problem behavior, psychometric properties, repetitive language use, Repetitive/stereotyped behaviour, Richards C, self-injury, Trajectory, Tuberous Sclerosis, Tuberous sclerosis complex
Observations on hand movements in Rett syndrome: A pilot study
Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease
Tags: 2017, Aggression, anxiety disorder/dm [Disease Management], Article, attention disturbance/dm [Disease Management], behavioral problems, brain atrophy/dm [Disease Management], characteristics, Child, Child Behavior, childhood disease/dm [Disease Management], Clinical Article, Comorbidity, daily life activity, delinquency, depression/dm [Disease Management], Disease Severity, drug resistant epilepsy/dm [Disease Management], drug resistant epilepsy/dr [Drug Resistance], Emotion, Eom S, Female, Human, intellectual impairment/dm [Disease Management], Intelligence, Intelligence Quotient, lactic acidosis/dm [Disease Management], Lee Y M, Leigh disease/dm [Disease Management], Leigh syndrome, Male, MELAS syndrome, MELAS syndrome/dm [Disease Management], mitochondrial disorders, muscle disease/dm [Disease Management], nervous system development, neuroimaging, nuclear magnetic resonance imaging, Parental Stress, Pediatric Neurology, postnatal depression/dm [Disease Management], Preschool Child, Priority Journal, problem behavior/dm [Disease Management], Prognosis, psychomotor development, Quality Of Life, sleep disorder/dm [Disease Management], social problem, somatization/dm [Disease Management], thinking impairment/dm [Disease Management], Trajectory
Sleep disturbance in Mowat-Wilson syndrome
Tags: 0 (Homeodomain Proteins), 0 (Repressor Proteins), 0 (ZEB2 protein human), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Australia, Behavior Rating Scale, characteristics, Child, Child Preschool, Einfeld S, Evans E, Facies, Female, Gene Expression, Hirschsprung Disease/co [Complications], Hirschsprung Disease/di [Diagnosis], Hirschsprung Disease/ge [Genetics], Hirschsprung Disease/pp [Physiopathology], Homeodomain Proteins/ge [Genetics], Humans, Intellectual Disability/co [Complications], Intellectual Disability/di [Diagnosis], Intellectual Disability/ge [Genetics], Intellectual Disability/pp [Physiopathology], Male, Microcephaly/co [Complications], Microcephaly/di [Diagnosis], Microcephaly/ge [Genetics], Microcephaly/pp [Physiopathology], Middle Aged, Mowat D, Mowat-Wilson syndrome, Mutation, Repressor Proteins/ge [Genetics], Severity Of Illness Index, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/co [Complications], Sleep Initiation and Maintenance Disorders/di [Diagnosis], Sleep Initiation and Maintenance Disorders/ge [Genetics], Sleep Initiation and Maintenance Disorders/pp [Physiopathology], Surveys And Questionnaires, Trajectory, Wilson M
Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS)
Attention and communication in Rett Syndrome
Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk
Tags: 2002, 22q11.2 Deletion Syndrome, Adolescent, Adult, behavioral problems, Biological Psychiatry, Blasey C, characteristics, Child, Child Behavior Disorders/genetics/psychology, Chromosome Deletion, Chromosomes Human Pair 22/genetics, Cognition Disorders/genetics/psychology, Comorbidity, Developmental Disabilities/genetics/psychology, Eliez S, Feinstein C, Female, Humans, Male, Mental Disorders/genetics/psychology, Phenotype, Reiss A L, Risk Factors, Schizophrenia/genetics, Trajectory
Rett syndrome and associated movement disorders
Tags: 1990, Adolescent, Adult, characteristics, Child, Child Preschool, Female, FitzGerald P M, gait disturbance, Humans, Infant, Jankovic J, Movement Disorders, Movement Disorders/etiology/physiopathology, Percy A K, Rett syndrome, Rett Syndrome/complications/physiopathology, Stereotyped Behavior, stereotypy, tone and motor problems, Trajectory
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
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Tags: 2005, Adolescent, Adult, Age of Onset, Archives of Disease in Childhood, Behavior Therapy, Benzodiazepines, characteristics, Child, Child Preschool, Delatycki M B, Fraser J, Gason A A, Humans, Incidence, Infant, Infant Newborn, melatonin, Melatonin/therapeutic use, MPS III, Mucopolysaccharidosis III/psychology, Preschool, Q3 Scoping Review Results, Questionnaires, Sleep Disorders/epidemiology/etiology/therapy, sleep disturbance/disorders, Trajectory, Treatment Outcome, Wraith J E
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.
Tags: 2002, Behavior Therapy, characteristics, Clinical Genetics, Data Collection, Delatycki MB, Fraser J, Humans, MPS III, Mucopolysaccharidosis III/complications, NET Files, Physicians, Sleep Disorders/complications, Sleep Disorders/drug therapy, Sleep Disorders/therapy, sleep disturbance/disorders, Trajectory, Wraith JE