Browse Items (167 total)

Tags: 2013, Backlog, BMC Palliative Care, Devins M, Epidemiology, Hain R, Hastings R, Journal Article, Noyes J, Palliative Care, Public Health, Symptom Control, Trajectory

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

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

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

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

Tags: 2016, Ajay D, Austin S, characteristics, Constipation, glycogen storage disease type II, JIMD Reports, Kishnani P, McNamara E R, Trajectory, urinary incontinence, Wiener J S

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

Tags: 2014, alertness, Allen T M, behavioral, characteristics, chromosome 22q11.2 deletion, Curtiss K, family environment, Hersh J, Hooper S R, Journal Of Intellectual Disability Research, parenting styles, Schoch K, Shashi V, social-behavioral outcomes, Trajectory

Tags: 1994, Adolescent, Adult, Aggression/px [Psychology], Anderson L T, Arousal, behavioral problems, characteristics, Child, Ernst M, Journal of Autism and Developmental Disorders, Lesch-Nyhan syndrome, self-injury, Trajectory

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

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

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

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

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

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

Tags: 2009, Anderson V, Beauchamp M H, behaviour, Boneh A, characteristics, Glutaric acidemia type I, Journal Of Inherited Metabolic Disease, tone and motor, Trajectory

Tags: 1999, Aggression, Archives of Disease in Childhood, Behavior, Berney T P, Burn J, characteristics, Constipation, De Lange syndrome, feeding difficulties, hyperactivity, Ireland M, self-injury, sleep disturbance, tone and motor problems, Trajectory

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

Tags: 2015, Boban S, characteristics, Rett syndrome, sleep disturbance/disorders, Trajectory

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

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

Tags: 1995, Adolescent, Brain and Development, Bruni O, characteristics, Child, Child Preschool, Circadian Rhythm, Cortesi F, Curatolo P, Epilepsy, Female, Giannotti F, Humans, Male, Polysomnography, sleep disturbance/disorders, Sleep Wake Disorders, Trajectory, Tuberous Sclerosis

Tags: 2013, Bruns D A, characteristics, chromosome 18 trisomy, feeding difficulties, Gastroesophageal Reflux, GERD, Springer S A, Topics in Clinical Nutrition, Trajectory

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

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

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

Tags: 2003, breathing difficulties, Cass Hilary, characteristics, Charman T, Constipation, Developmental Medicine and Child Neurology, feeding difficulties, Owen L, Reilly S, Rett syndrome, sleep disturbance, Slonims V, Trajectory, Weekes L, Wigram T, Wisbeach A

Tags: 2012, Adams H, Augustine E F, Behavior, characteristics, Cialone J, De Blieck E A, Dure L S, Journal Of Inherited Metabolic Disease, Kwon J M, Levy E, Marshall F J, Mink J W, NCL3, Newhouse N, Ramirez-Montealegre D, Rose K R, tone and motor, Trajectory, Vierhile A

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

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

Tags: 2016, Behavior, breathing difficulties, characteristics, Cianfaglione R, Clarke A, Felce D, hand stereotypies, Hastings R P, Journal of Developmental and Physical Disabilities, Kerr M, Meek A, Rett syndrome, self-injury, stereotypy, tone and motor problems, Trajectory

Tags: 1998, American Journal of Mental Retardation, behavioral problems, Boer H, characteristics, Clarke D J, Cri-du-chat, Trajectory

Tags: 2011, alertness, American Journal on Intellectual and Developmental Disabilities, autistic symptoms, characteristics, Claro A, Cornish K, Cri-du-chat, Fatigue, Gruber R, sleep disturbance, Trajectory

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

Tags: 2013, adults, apnea syndrome, breathing difficulties, characteristics, Copland J, Corben L A, daytime sleepiness, Delatycki M B, Disease, Friedreich's ataxia, Ho M, Neurology, Neurosciences & Neurology, obstructive sleep apnea, Reliability, Scale, Tai G, Trajectory

Tags: 2010, characteristics, Churchyard A J, Collins V, Corben L A, Delatycki M B, Friedreich's ataxia, Journal Of Neurology, Tai G, tone and motor problems, Trajectory, Wilson C

Tags: 1998, Bramble D, characteristics, Cornish K M, Cri-du-chat, externalizing behaviors, hyperactivity, impulsiveness, Journal Of Applied Research In Intellectual Disabilities, Munir F, poor concentration, Psychology, Rehabilitation behavioral problems, Trajectory

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

Tags: 2009, characteristics, Croarkin E, DiProspero N, Friedreich's ataxia, Harris-Love M, Journal of Neurologic Physical Therapy, Maring J, Pfalzer L, Siegel K, tone and motor problems, Trajectory

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