Browse Items (167 total)
- Tags: Trajectory
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
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
Orthopedic manifestations and implications for individuals with Costello syndrome
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
Gross motor profile in rett syndrome as determined by video analysis
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
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
Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: A prospective 6-year follow-up study
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
Gastrointestinal complications of epidermolysis bullosa in children
Tags: 2008, acquisita, alpha-6-beta-4, balloon-dilatation, British Journal of Dermatology, characteristics, colitis, colon interposition, Constipation, crohns-disease, Dermatology, epidermolysis bullosa, Esophageal strictures, expression, feeding difficulties, Freeman E B, gastro-oesophageal reflux, gastrointestinal, gastrointestinal problems, GI problems, Haynes L, Koglmeier J, Lindley K J, manifestations, Martinez A E, Mellerio J E, oesophageal strictures, pyloric atresia, Sebire N J, Shah N, Trajectory, vii collagen
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
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
Incontinence in Individuals with Rett Syndrome: A Comparative Study
Tags: 2012, adaptive functioning, Adolescents, behavioral-phenotype, bowel incontinence, characteristics, Children, Comparative Study, Curfs L M G, Didden R, Disorders, enuresis, Epidemiology, fecal incontinence, females, Giesbers S, Incontinence, Intellectual Disability, Journal of Developmental and Physical Disabilities, Korzilius H, Lang R, mental-retardation, Radstaake M, Rehabilitation, Rett syndrome, Smeets E, Trajectory, urinary incontinence, von Gontard A
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
Hand stereotypies distinguish Rett syndrome from autism disorder
Respiratory disturbances in rett syndrome: Don't forget to evaluate upper airway obstruction
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
Sleep alterations in juvenile neuronal ceroid-lipofuscinosis
Tags: 2000, Adolescent, Adult, Age Factors, Brain, Case-Control Studies, characteristics, Child, Female, Genotype, Hamalainen M, Humans, Kirveskari E, Larsen A, Male, NCL3, Neuronal Ceroid-Lipofuscinoses, Partinen M, Pediatric Neurology, Polysomnography, Sainio K, Salmi T, Santavuori P, Severity Of Illness Index, Sleep REM, sleep disturbance/disorders, Sleep Stages, Sleep Wake Disorders, Telakivi T, Trajectory
Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin
Tags: 0 (Antioxidants), 2005, 2208-40-4 (6-sulfatoxymelatonin), Administration Oral, Adolescent, Antioxidants, Antioxidants/ad [Administration & Dosage], Antioxidants/pk [Pharmacokinetics], Case-Control Studies, characteristics, Child, Child Preschool, Circadian Rhythm, English J, Female, Hancock E, Humans, JL5DK93RCL (Melatonin), Journal of Child Neurology, Male, melatonin, Melatonin/aa [Analogs & Derivatives], Melatonin/ad [Administration & Dosage], Melatonin/pk [Pharmacokinetics], Melatonin/ur [Urine], O'Callaghan F, Osborne J P, Reference Values, sleep disturbance/disorders, Sleep Wake Disorders, Sleep Wake Disorders/co [Complications], Sleep Wake Disorders/pp [Physiopathology], Trajectory, Tuberous Sclerosis, Tuberous Sclerosis/co [Complications], Tuberous Sclerosis/pp [Physiopathology]
Sixty-four patients with Brachmann-de Lange syndrome: a survey
Tags: 1985, American Journal Of Medical Genetics, behavioral problems, Birth Weight, breathing difficulties, characteristics, Child, De Lange syndrome, De Lange Syndrome/etiology/genetics/physiopathology, feeding difficulties, Female, Hawley P P, Humans, Jackson L G, Kurnit D M, Male, Psychomotor Performance, respiratory tract symptoms, Surveys And Questionnaires, Trajectory
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
Tags: 1991, achondroplasia, Achondroplasia/complications/physiopathology/psychology, American Journal Of Medical Genetics, Atrophy, Brain/pathology, characteristics, Child Preschool, Electroencephalography, Evoked Potentials Somatosensory, Female, Hecht J T, Horton W A, Humans, Infant, Intellectual Disability/etiology, Intelligence, Male, Neuropsychological Tests, Patchell L, Prospective Studies, Psychomotor Performance, Respiration Disorders/etiology/physiopathology, respiratory dysfunction, Sleep Apnea Syndromes/etiology/physiopathology, sleep disturbance, Thompson N M, tone and motor problems, Trajectory, Weir T
CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)
Tags: 1995, Alila A, American Journal Of Medical Genetics, body temperature, characteristics, Children, circadian rhythms, cortisol, disturbance, Genetics & Heredity, Hatonen T H, Heikkila E, Heiskala H, Laakso M L, melatonin, mental handicap, Motor Activity, NCL3, neuronal ceroid lipofuscinosis, Radioimmunoassay, retina, Salmi T, Santavuori P, Sleep, sleep disturbance/disorders, Telakivi T, Trajectory
The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study
Tags: 2016, 5 hydroxyindoleacetic acid, Adolescent, Adult, Age, ankle, Article, Barrowman N, Canadian Journal of Neurological Sciences, Cerebrospinal Fluid, characteristics, Child, Cohort Analysis, Cross-sectional Study, Disease Severity, Dopamine, Dystonia, Female, genetic susceptibility, homovanillic acid, homovanillic acid/ec [Endogenous Compound], Human, Humphreys P, hva, Incidence, Major Clinical Study, mecp2, methyl CpG binding protein 2, methyl CpG binding protein 2/ec [Endogenous Compound], missense mutation, mobilization, muscle rigidity, muscle tone, musculoskeletal disease assessment, neck, parkinsonism, Pharmacokinetics, Pilot Study, Priority Journal, Prospective Study, Quantitative Study, Rett syndrome, Rett syndrome rigidity distribution score, rigidity, scoring system, Speech, tone and motor problems, Trajectory, walking difficulty
Development, behaviour and seizures in 300 cases of tuberous sclerosis
Tags: 1993, Adolescent, Adult, Aged, Aggression, behavioral problems, characteristics, Child, Child Preschool, Developmental Disabilities/complications/diagnosis, Family, Female, Humans, Hunt A, hyperactive behavior, Infant, Journal Of Intellectual Disability Research, Learning Disorders/complications, Male, Middle Aged, Psychiatric Status Rating Scales, Seizures/complications, sleep disturbance, Sleep Wake Disorders/complications, Social Behavior Disorders/complications, Trajectory, Tuberous Sclerosis, Tuberous Sclerosis/complications
Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire-based study
Tags: 1994, Adolescent, behavioral problems, characteristics, Child, Child Preschool, Developmental Disabilities/complications, Developmental Medicine and Child Neurology, Epilepsy/etiology, Female, Humans, Hunt A, Learning Disorders/complications, Male, Parents/psychology, sleep disturbance, Sleep Wake Disorders/etiology/psychology, Stores G, Stress Psychological/etiology, Surveys And Questionnaires, Trajectory, Tuberous Sclerosis, Tuberous Sclerosis/complications/psychology