Browse Items (167 total)

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

Tags: 2016, characteristics, Freeman K A, Journal Of Developmental And Behavioral Pediatrics, Olufs E, Roullet J B, sleep disturbance/disorders, Smith-Lemli-Optiz syndrome, Steiner R D, Trajectory, Tudor M

Tags: 2007, adaptive behavior functioning, Blasco P, characteristics, Freeman K, Gregory A, Hayflick S, Hogarth P, IND, Journal Of Intellectual Disability Research, tone and motor problems, Trajectory, Turner A

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

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

Tags: 2012, Autism, characteristics, childhood, Children, Developmental disorders, Goldman S, hand stereotypies, mecp2, motor stereotypies, mouthing, Movement Disorders, movements, Neurosciences & Neurology, Rett syndrome, stereotypies, Temudo T, tone and motor problems, Trajectory

Tags: 2012, Bijlmer R P G M, breathing difficulties, characteristics, Hagebeuk E E O, Journal of Child Neurology, Koelman J H T M, Poll-The B T, respiratory muscle strength, Rett syndrome, Trajectory

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: 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

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]

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

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

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

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

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

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

Tags: 2002, Adolescent, Adult, American Journal of Mental Retardation, behavioral problems, characteristics, Child, Child Preschool, Compulsive Behavior, De Lange syndrome, De Lange Syndrome/px [Psychology], Female, Hall S, Humans, Hyman P, Infant, Male, Oliver C, Restraint Physical/px [Psychology], Self-Injurious behavior, Self-Injurious Behavior/px [Psychology], self-restraint, Trajectory

Tags: 2017, agenesis of the corpus callosum, characteristics, Churchill S S, Ingram D G, Pediatric Neurology, Quality Of Life, sleep disturbance/disorders, Trajectory

Tags: 2003, characteristics, feeding difficulties, feeding skills, irregular breathing problems, Isaacs J S, Journal of the American Dietetic Association, Lane J, Murdock A, Nutrition & Dietetics, Percy A K, Rett syndrome, Trajectory

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

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

Tags: 2011, American Journal of Medical Genetics Part A, anamnesis, apnea, Article, Azevedo A C, Barrios P, breathing difficulties, characteristics, Child, Clinical Article, Clinical Feature, Controlled Study, Cross-sectional Study, Dalcin P, disease association, Disease Severity, Doppler echocardiography, Fagondes S, Female, Giugliani R, Glycosaminoglycans, Human, John A, Lysosomal storage diseases, lysosome storage disease, macroglossia, Male, Maroteaux Lamy syndrome, Menna-Barreto S, Morquio syndrome, MPSVI, Mucopolysaccharidosis, oxygen saturation, oxygen/ec [Endogenous Compound], physical examination, pigeon thorax, Polysomnography, Preschool Child, Prevalence, Priority Journal, Prospective Study, pulmonary hypertension, Schwartz I, Sleep apnea, sleep apnea syndrome/di [Diagnosis], sleep disorder, snoring, Trajectory, witnessed apnea

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

Tags: 2003, Abnormalities Multiple/physiopathology/psychology, Adolescent, Akatsuka A, American Journal of Medical Genetics Part A, Aoyama K, behavioral problems, characteristics, Child, Child Preschool, costello syndrome, feeding difficulties, Female, Fueki N, Fukushima Y, Humans, Infant, Intellectual Disability/physiopathology/psychology, Irritability, Kawame H, Kurosawa K, Male, Masuno M, Matsui M, Matsuo M, Miyatsuka Y, Ochiai Y, Ohashi H, sleep disturbance, Suzuki K, Trajectory

Tags: 1309378-01-5 (botulinum toxin A), 1638949-86-6 (botulinum toxin A), 1800016-51-6 (botulinum toxin A), 2017, 93384-43-1 (botulinum toxin A), Adolescent, Adult, Aicardi-Goutières syndrome, anamnesis, Article, aspiration pneumonia, Assessment, Bernard G, botulinum toxin A/dt [Drug Therapy], breathing difficulties, characteristics, Child, Clinical Article, Cohort Analysis, Comorbidity, Daniel S J, Drool, drooling, Dysphagia, feeding difficulties, head and neck disease, hearing impairment, Human, hypersalivation/su [Surgery], International Journal of Pediatric Otorhinolaryngology, Kay-Rivest E, Khendek L, Krabbe disease, Leukodystrophy, leukodystrophy/dt [Drug Therapy], nose feeding, otolaryngologist, Pelizaeus-Merzbacher disease, physical examination, Physician Attitude, Priority Journal, Quality Of Life, quality of life assessment, Questionnaire, sleep disturbance, stomach tube, Trajectory, x-linked adreno-leukodystrophy

Tags: 2017, adults, aspiration, characteristics, Corben L A, Delatycki M B, Dysphagia, feeding difficulties, Friedreich's ataxia, Gait disorders/ataxia, Gupta I, interrater reliability, Keage M J, Management, molecular-genetics, Otorhinolaryngology, pathogenesis, Pathology, penetration, penetration-aspiration scale, Quality Of Life, Speech, Swallowing, Trajectory, Trinucleotide repeat diseases, Videofluoroscopy, Vogel A P

Tags: 2013, 22q11.2 Deletion Syndrome, American Journal of Medical Genetics Part A, Beemer F, behavioral problems, characteristics, de Veye H S, Duijff S, Klaassen P, Sinnema G, Trajectory, Vorstman J

Tags: 1994, Adolescent, Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy, Brain/pathology/physiopathology, Carlsson G, characteristics, Child, Child Preschool, Combined Modality Therapy, Disability Evaluation, Dysarthria/genetics/physiopathology/therapy, Dystonia/genetics/physiopathology/therapy, dystonic-dyskinesia disorder, Female, Fossen A, Glutarates/urine, Glutaric acidemia type I, Glutaryl-CoA Dehydrogenase, Holme I, Humans, hyperkinetic disorder, Infant, Infant Newborn, Intellectual Disability/genetics/physiopathology/therapy, Jellum E, Kyllerman M, Lundberg M, Male, Movement Disorders, Movement Disorders/genetics/physiopathology/therapy, Neurologic Examination, Neuropsychological Tests, Oxidoreductases Acting on CH-CH Group Donors, Oxidoreductases/deficiency, Skjeldal O H, Tomography X-Ray Computed, tone and motor problems, Trajectory, von Dobeln U

Tags: 2017, Bogdanova-Mihaylova P, bowel incontinence, bowel symptoms, characteristics, Emmanuel A, Friedreich's ataxia, Giunti P, Lad M, lower UTI symptoms, Murphy S, Orphanet Journal Of Rare Diseases, Pandolfo M, Panicker J, Parkinson M H, Rai M, Trajectory, urinary incontinence, Walsh R A

Tags: 2016, aberrant behavior, American Journal of Medical Genetics Part C - Seminars in Medical Genetics, Autism spectrum disorder, Behavior, behavioral problems, Brain, characteristics, Checklist, Clemens J, Cornelia de Lange syndrome, De Lange syndrome, functional connectivity, Genetics & Heredity, Grados M A, hypoplasia, INDIVIDUALS, Kimball A, Kliewer M A, Kline A D, Lal T R R, Lopes T, mental-retardation, MRI, mutations, neuroanatomy, nipped-b, O'Connor J, Phenotype, Rebsamen S L, Trajectory

Tags: 2012, Adolescent, Adult, Age Factors, Annese F, Barrish J O, Bone Diseases/complications/epidemiology, Caeg E, characteristics, Child, Child Preschool, Child Nutrition Disorders/epidemiology/etiology/genetics, Constipation, dysmotility, Dysphagia, feeding difficulties, Female, Gastrointestinal Diseases/epidemiology/etiology/genetics, gastrointestinal dysmotility, Geerts S, Glaze D G, Growth Disorders/epidemiology/etiology/genetics, Health Surveys, Humans, Infant, Infant Nutrition Disorders/epidemiology/etiology/genetics, Journal Of Pediatric Gastroenterology And Nutrition, Lane J B, Lee H S, Male, McNair L, Methyl-CpG-Binding Protein 2/genetics, Motil K J, Mutation, Neul J L, Nutrition Disorders/epidemiology/etiology/genetics, Parents, Percy A K, Prevalence, Rett syndrome, Rett Syndrome/complications/genetics, Skinner S A, Surveys And Questionnaires, Trajectory, Young Adult

Tags: 2000, ataxia telangectasia, characteristics, Children, Crawford T O, dysphagia aspiration, feeding difficulties, Journal of Pediatrics, Koerner C B, Lederman H M, Lefton-Greif M A, Loughlin G M, low weight, Pediatrics, Trajectory, Winkelstein J A, Zaburak M

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

Tags: 2016, characteristics, de los Reyes E, Lehwald L M, loss of vision, NCL3, Pappa R, Pediatric Neurology, Seizures, sleep disturbance/disorders, Steward S, Trajectory

Tags: 2001, breathing difficulties, characteristics, Dinwiddie R, frequent awakenings, Galactosialidosis, International Journal of Pediatric Otorhinolaryngology, Lane R, Leighton SEJ, MPSI, MPSII, MPSIII, MPSIIIA, MPSIIIB, MPSVI, MPSVII, obstructive sleep apnea, OSA, Papsin B, poor sleep quality, sleep disturbance, Trajectory, Vellodi A

Tags: 2006, Acetylglucosamine, Acetylglucosamine/analogs & derivatives/urine, Adolescent, Adult, Aspartylglucosaminuria, characteristics, Child, Child Preschool, Children W/SNI, Female, Heiskala H, Humans, Journal Of Inherited Metabolic Disease, Kaski M, Kivinen S, Laakso M L, Lindblom N, Longitudinal Studies, Male, Metabolism Inborn Errors, Metabolism Inborn Errors/complications/pathology, Middle Aged, Prevalence, Questionnaires, Sleep Disorders/complications/diagnosis, sleep disturbance/disorders, Sleep Wake Disorders, Surveys And Questionnaires, Trajectory

Tags: 2010, 22q11.2 Deletion Syndrome, alertness, characteristics, Fatigue, Looman W S, O'Conner-Von S K, The Cleft Palate - Craniofacial Journal, Thurmes A K, Trajectory

Tags: 2003, Adolescent, Adult, American Journal of Medical Genetics Part A, characteristics, Child, Child Preschool, De Lange syndrome, Esophagogastric Junction, feeding difficulties, Female, Gastroesophageal Reflux, Humans, Infant, Luzzani S, Macchini F, Male, Milani D, Selicorni A, Trajectory, Valadè A

Tags: 2009, Adolescent, Adult, Braam W, characteristics, Child, Child Preschool, Cri-du-chat, Cri-du-Chat Syndrome/ep [Epidemiology], Cri-du-Chat Syndrome/ge [Genetics], Curfs L M, Didden R, Female, Genetic Testing, Humans, Infant, Infant Newborn, Journal Of Intellectual Disability Research, Korzilius H, Maas A P, Male, Middle Aged, Prevalence, Severity Of Illness Index, sleep disturbance/disorders, Sleep Wake Disorders/di [Diagnosis], Sleep Wake Disorders/ep [Epidemiology], Smits M G, Statistics Nonparametric, Surveys And Questionnaires, Trajectory, Young Adult

Tags: 2012, characteristics, cri-du-chat syndrome, Curfs L M G, Didden R, Jacobsen syndrome, Korzilius H, Maas A, Research in Developmental Disabilities, sleep disturbance/disorders, Trajectory