Browse Items (72 total)
- Tags: Child Preschool
Home-based Palliative Intervention to Improve Quality of Life in Children with Cancer: A Randomized Controlled Trial
Tags: 2022, 2022 Special Edition Low Resource Setting Issue, Adolescent, Andriastuti M, Anorexia, Asian Pacific Journal Of Cancer Prevention, Cancer, Child, Child Preschool, Halim PG, home visits, Humans, Neoplasms/therapy, Pain, Palliative, Palliative Care, Pediatric, Quality Of Life, Tunjungsari E, Widodo DP
Admission factors associated with nutritional status deterioration and prolonged pediatric intensive care unit stay in critically ill children: PICU-ScREEN multicenter study
Tags: 2022, April 2022 List, Child, Child Preschool, Chronic Disease, Critical Illness, Hauschild DB, Humans, Infant, Intensive Care Units Pediatric, Journal Of Parenteral And Enteral Nutrition, Length Of Stay, malnutrition, Mehta NM, Moreno YMF, Nutritional Status, Oliveira LDA, Outcomes, Pediatric Intensive Care Unit, PICU-ScREEN Study Group, Prospective Studies, Retrospective Studies, Silveira TT, Ventura JC
Insights into the perception that research ethics committees are a barrier to research with seriously ill children: A study of committee minutes and correspondence with researchers studying seriously ill children
Tags: 2020, Adolescent, April 2021 List, Bluebond-Langner M, Butler AE, Child, Child Preschool, Content Analysis, Ethics Committees, Ethics Committees Research, Female, Human Experimentation/ethics, Humans, Infant, Infant Newborn, Male, Palliative Medicine, Research, Research Design, Terminally Ill, United Kingdom, Vincent K
Prediction of Acquired Morbidity Using Illness Severity Indices in Pediatric Intensive Care Patients
Tags: 2020, Adolescent, Allen JC Jr, Child, Child Preschool, Critical Care, Hospital Mortality, Humans, Infant, Infant Newborn, Intensive Care Units Pediatric, Lee JH, March 2021 List, Morbidity, Ong C, Pediatric Critical Care Medicine, Retrospective Studies, Risk Factors, Senna S, Severity Of Illness Index, Singapore/epidemiology, Sultana R, Wong JJ
Healthcare utilization and costs of pediatric home mechanical ventilation in Canada
Tags: 2020, Adult, Ambulatory Care/economics, Amin R, Canada, Caregivers/economics, Child, Child Preschool, Coyte PC, Female, Guerriere D, Health Care Costs, Health Expenditures, healthcare costs, healthcare utilization, Home Care Services/economics, home mechanical ventilation, Humans, Katz SL, long-term mechanical ventilation, Longitudinal Studies, Male, March 2021 List, McKim DA, Middle Aged, Nonoyama ML, Patient Acceptance of Health Care, Pediatric Pulmonology, Pediatrics, Prospective Studies, Quality Of Life, Respiration Artificial/economics, Rose L, Tracheostomy, ventilator assisted individual, Wasilewski M, Zagorski B
Use of standardized body composition measurements and malnutrition screening tools to detect malnutrition risk and predict clinical outcomes in children with chronic conditions
Tags: 2020, Adolescent, American Journal of Clinical Nutrition, Anthropometry, Body Composition, Child, Child Preschool, Child Development, Child Nutrition Disorders/diagnosis, Chronic Disease, Clinical outcomes, Fawbert K, Female, Fewtrell M, Hill S, Humans, Kennedy K, Lara-Pompa NE, Macdonald S, Male, malnutrition, March 2021 List, nutritional risk, pediatric patients, Risk Factors, Screening, Shaw V, Valente J, Wells JC, Williams J
Parent-Reported Symptoms and Medications Used Among Children With Severe Neurological Impairment
Tags: 2020, Adolescence, Blackmer AB, Central Nervous System Agents -- Therapeutic Use, Child, Child Preschool, Comorbidity, Confidence Intervals, Cross Sectional Studies, Data Analysis Software, Descriptive Statistics, Fairclough DL, Feinstein JA, Female, Feudtner C, Funding Source, Gregoire LA, Health Resource Utilization, Holstein J, Human, Infant, JAMA Network Open, Kempe A, Male, March 2021 List, Nervous System Diseases -- Epidemiology -- In Adolescence, Nervous System Diseases -- Epidemiology -- In Infancy and Childhood, Nervous System Diseases -- Symptoms, Peripheral Nervous System Agents -- Therapeutic Use, Polypharmacy, Record Review, Samay S, scales, Severity of Illness, Valuck RJ
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
Tags: 2020, Arje D, Buera J, Canada, Child, Child Preschool, Chitayat D, Cohen E, Cohn RD, Costain G, Curtis M, Female, Genetic Testing/statistics & numerical data, Hayeems RZ, Humans, JAMA Network Open, Luca S, Male, Marano M, March 2021 List, Marshall CR, Mendoza-Londono R, Meyn MS, Orkin J, Predictive Value of Tests, Prospective Studies, Reproducibility of Results, Reuter MS, Scherer SW, Snell M, Somatoform Disorders/diagnosis, Stavropoulos DJ, Sung WWL, Thiruvahindrapuram B, Trost B, Veenma D, Walker S, Whole Genome Sequencing/statistics & numerical data, Yuen RKC
Medical complications in a telemedicine home care programme for paediatric ventilated patients
Tags: 2020, Brines J, Cantavella T, Child, Child Preschool, chronic respiratory failure, Domínguez A, February 2021 List, Female, Flor-Macián EM, Home Care Services/organization & administration/statistics & numerical data, Hospitalization/statistics & numerical data, Humans, Intensive Care Units Pediatric/organization & administration/statistics &, invasive mechanical ventilation, Journal Of Telemedicine And Telecare, life-threatening event, López-Prats JL, Male, Monitoring Physiologic, Muñoz-Bonet JI, numerical data, paediatric home care, Prospective Studies, Quality Of Life, Respiration Artificial/adverse effects/methods, Telemedicine, Telemedicine/organization & administration/statistics & numerical data, Tracheotomy/rehabilitation, ventilator-dependent children, Vidal Y
A Tertiary Care-based Complex Care Program: Improving Care for Children With Medical Complexity
Tags: 2020, Aredas BL, Caregivers/psychology, Case Management/organization & administration, Child, Child Preschool, Dye M, Emergency Service Hospital/statistics & numerical data, English R, February 2021 List, Galligan MM, Hogan AK, Hospitalization/statistics & numerical data, Humans, Infant, Infant Newborn, Leach KF, Length Of Stay, Medical Care, Multiple Chronic Conditions/therapy, Patient Acceptance Of Health Care/statistics & Numerical Data, Patient Care Team/organization & administration, Patient Satisfaction, Quality Improvement/organization & administration, Rubin D, Stack NJ, Tertiary Healthcare/economics/organization & administration
Adverse Events During Intrahospital Transport of Critically Ill Children: A Systematic Review
Safety and pharmacokinetics of medical cannabis preparation in a monocentric series of young patients with drug resistant epilepsy
Tags: 2020, Adolescent, Adult, Astuni P, Barco S, Calevo MG, Cangemi G, Cannabidiol (CBD), Child, Child Preschool, childhood, Complementary Therapies in Medicine, De Grandis E, Delta-9-tetrahydrocannabinol (THC), Dose-Response Relationship Drug, Drug Resistant Epilepsy/drug therapy, Drug-resistant epilepsy, Female, Fucile C, Gherzi M, Humans, January 2021 List, Male, Mancardi MM, Manfredini L, Marini V, Mattioli F, Medical cannabis galenic preparation, Medical Marijuana/administration & dosage/adverse effects/pharmacokinetics, Milano G, Nobili L, Prospective Studies, Young Adult
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings
Tags: 2017, achondroplasia, Achondroplasia/co [Complications], Achondroplasia/ge [Genetics], Age Factors, Antoniazzi F, Cantalupo G, characteristics, Child, Child Preschool, Cohort Studies, EC 2-7-10-1 (FGFR3 protein human), EC 2-7-10-1 (Receptor Fibroblast Growth Factor Type 3), feeding difficulties, Female, Gasperi E, Humans, Incidence, Infant, Lo Tartaro P, Male, Minerva Pediatrica, Piacentini G, Polysomnography/mt [Methods], Receptor Fibroblast Growth Factor Type 3/ge [Genetics], respiratory sleep disorder, Sleep Apnea Syndromes/di [Diagnosis], Sleep Apnea Syndromes/ep [Epidemiology], Sleep Apnea Syndromes/et [Etiology], Surveys And Questionnaires, Trajectory, Zaffanello M
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica
Tags: 2015, Adolescent, Boschin M, Child, Child Preschool, Combined Modality Therapy, Dilatation/methods, Endoscopy, epidermolysis bullosa, Epidermolysis Bullosa Dystrophica/complications, Esophageal Stenosis/etiology/therapy, feeding difficulties, Female, Follow-up Studies, Frosch M, Gastrostomy, Gottschalk A, growth improvement, Hahnenkamp K, Humans, Infant, Laukoetter M, Male, Mennigen R, Nutrition, orthograde balloon dilation, Recurrence, retrograde dilation, Senninger N, surgical intervention, Treatment Outcome, Tubergen D, Vowinkel T
Effect of hand splints on stereotypic hand behavior of girls with Rett syndrome: a replication study
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
Tags: 2010, Adolescent, Adult, bilateral pallidal stimulation, Brain, Brain Diseases/physiopathology/therapy, Brain/physiopathology, Child, Child Preschool, Deep Brain Stimulation/adverse effects/methods, Dystonia, Dystonia/physiopathology/therapy, Female, Functional Laterality, Gill S S, Globus Pallidus/physiopathology, Haenggeli C A, Hayflick S J, Hogarth P, Humans, IND, Infant, Iron/metabolism, Jech R, Kurlemann G, Leenders K L, Limousin P, Malanga C J, Male, Moro E, Neurodegenerative Diseases/physiopathology/therapy, Ostrem J L, Pauls K A, Peker S, Retrospective Studies, Revilla F J, Santens P, Schnitzler A, Sharma N, surgical intervention, Timmermann L, Tisch S, tone and motor problems, Treatment Outcome, Valldeoriola F, Vesper J, Volkmann J, Wieland K, Woitalla D, Young Adult
Skin temperature in the extremities of healthy and neurologically impaired children
Tags: 2005, Brain Diseases/diagnosis/physiopathology, characteristics, Child, Child Preschool, chromosome 22q11.2 deletion, European Journal of Paediatric Neurology, Female, Foot, Hand, Humans, Infrared Rays, Lundeberg T, Male, Nordahl G, Skin Temperature, SMA1, Spinal Cord Diseases/diagnosis/physiopathology, Stener-Victorin E, Svedberg L E, temperature regulation, Trajectory, Walking
Disorders of Upper Limb Movements in Ataxia-Telangiectasia
Tags: 2013, abnormal involuntary movements, accelerometry, Adolescent, Adult, Age Factors, ataxia telangiectasia, Ataxia Telangiectasia/pp [Physiopathology], Biomechanical Phenomena, characteristics, Child, Child Preschool, Crawford T O, Cross-sectional Studies, Female, Humans, kinetic tremor, Lederman H M, Male, Mandir A S, Motor Activity, Motor Activity/ph [Physiology], Movement, Movement Disorders/pp [Physiopathology], Movement/ph [Physiology], Periodicity, PLoS One, postural tremor, Posture/ph [Physiology], resting tremor, Severity Of Illness Index, Shaikh A G, tone and motor problems, Trajectory, Tremor/pp [Physiopathology], Upper Extremity, Upper Extremity/pp [Physiopathology], Young Adult, Zee D S
Respiratory complications of mucopolysaccharide storage disorders
Tags: 1988, adenoidectomy, Adolescent, Adult, Airway Obstruction/et [Etiology], Anesthesia General/ae [Adverse Effects], beta adrenergic blockers, breathing difficulties, calcium antagonists, Cardiovascular Diseases/et [Etiology], Child, Child Preschool, digoxin, diuretics, Female, Humans, Infant, Intubation Intratracheal/ae [Adverse Effects], Lung Diseases/et [Etiology], Lung Diseases/pp [Physiopathology], Male, Medicine, MLII, MLIII, MPSI, MPSII, MPSVI, Mucopolysaccharidoses/co [Complications], Mucopolysaccharidoses/mo [Mortality], Mucopolysaccharidoses/pp [Physiopathology], pharmacologic interventions, Pyeritz R E, respiratory problems, Respiratory Tract Diseases/et [Etiology], Respiratory Tract Diseases/pp [Physiopathology], Respiratory Tract Diseases/ra [Radiography], Retrospective Studies, Semenza G L, Sleep Apnea Syndromes/et [Etiology], Spinal Diseases/et [Etiology], Spinal Diseases/ra [Radiography], surgical interventions, theophylline, Tonsillectomy, Tracheostomy
Efficacy and tolerance of gastrostomy feeding in pediatric forms of neuromuscular diseases
Tags: 2002, Adolescent, Adult, Child, Child Preschool, Cuisset J, Devos P, Enteral Nutrition, feeding difficulties, Female, Follow-up Studies, Gastroesophageal Reflux, Gastroesophageal Reflux/complications, Gastrostomy, GERD, Gottrand F, Guimber D, Humans, Infant, Infant Newborn, Journal Of Parenteral And Enteral Nutrition, Male, Michaud L, Neuromuscular Diseases/complications/therapy, Nutritional Status, Percutaneous Endoscopic Gastrostomy, Seguy D, SMA type I, surgical intervention, Treatment Outcome, Turck D, Weight Gain
Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study
Tags: 2002, Adolescent, Child, Child Preschool, Davies P, Developmental Disabilities, Developmental Disabilities/complications, Developmental Medicine and Child Neurology, Dose-Response Relationship Drug, Epilepsy, Epilepsy/complications, Female, Humans, Infant, Lennox-Gastaut syndrome, Leukodystrophy, Male, Medical Records, melatonin, Melatonin/therapeutic use, MPSII, MPSIII, Nervous System Diseases, Nervous System Diseases/complications, Outpatients, pharmacologic intervention, Q3 Scoping Review Results, Ross C, Sex Factors, Sleep Disorders/complications/drug therapy, sleep disturbance/disorders, Sleep Wake Disorders, Vision Disorders, Vision Disorders/complications, Whitehouse W
The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: part I: development and provisional clinical reference data
Tags: 2012, Adolescent, Adult, Aged, Aged 80 and over, Aggression/psychology, Attention Deficit and Disruptive Behavior, behavioral problems, Child, Child Preschool, Didden R, Disorders/diagnosis/epidemiology/psychology, Dumont E L, Female, Hastings R, Humans, Intellectual Disability/diagnosis/epidemiology/psychology, Journal Of Intellectual Disability Research, Kroes D B, Male, Matson J L, Middle Aged, Multivariate Analysis, Personality Inventory/standards/statistics & numerical data, Prevalence, Reference Values, Rojahn J, Rowe E W, scale development, Self-Injurious Behavior/diagnosis/epidemiology/psychology, Sensitivity and Specificity, Sharber A C, Stereotypic Movement Disorder/diagnosis/epidemiology/psychology, tool development, unspecified ID, Young Adult
Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease
Tags: 2003, Adolescent, Adult, Anticonvulsants/therapeutic use, Barabas G, behavioral problems, Carbamazepine/therapeutic use, characteristics, Child, Child Preschool, Chromosomes Human X/genetics, Developmental Medicine and Child Neurology, Diazepam/therapeutic use, Eddey G E, Female, Giacomini K D, Humans, Infant, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/genetics, Male, Reck J F, Robey K L, Self-Injurious Behavior/diagnosis/drug therapy, self-injury, Surveys And Questionnaires, Trajectory
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
Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration
Tags: 2001, Adolescent, Age Factors, Brain, Brain and Development, characteristics, Child, Child Preschool, Christodoulou J, Cohort Studies, Ellaway C, Epilepsy, Female, Humans, Leonard H, Movement Disorders, Peat J, Rett syndrome, Sleep, sleep disturbance/disorders, Sleep Wake Disorders, Trajectory
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
Development of global rating instruments for pediatric patients with ataxia telangiectasia
Tags: 2016, Adolescent, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], Ataxia Telangiectasia/ep [Epidemiology], Ben-Zeev B, Borgohain R, Brief Ataxia Rating Scale, Child, Child Preschool, D'Agnano D, European Journal of Paediatric Neurology, Female, Hegde A U, Humans, ICARS, Leuzzi V, Male, Micheli R, Molinaro A, Mridula K R, Nissenkorn A, Pediatrics/mt [methods], SARA, scale development, Severity Of Illness Index, tone and motor problems, tool development, Yareeda S
Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study
Tags: 1983, Adolescent, Adult, Aggression, behavioral problems, characteristics, Child, Child Preschool, Child Behavior Disorders, Child Development, Cognition, Family, feeding difficulties, Female, Humans, hyperactivity, Infant, Journal of Mental Deficiency Research, Kelly T E, Male, Motor Skills, MPSII, MPSIII, Mucopolysaccharidoses, Mucopolysaccharidosis III, Nidiffer F D, Parents, physical aggression, sleep disturbance, sleep problems, Stress Psychological, Trajectory, urinary incontinence
The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy
Tags: 2006, Adolescent, Child, Child Preschool, Clinical Trials as Topic, Endpoint Determination, Female, GMFM, Humans, Hynan L S, Iannaccone S T, Male, Motor Activity/physiology, Nelson L, Neuromuscular Disorders, Outcome Assessment (Health Care)/methods, Owens H, Psychomotor Performance/physiology, scale development, Sensitivity and Specificity, Severity Of Illness Index, SMA1, Spinal Muscular Atrophies of Childhood/drug therapy/physiopathology, tone and motor problems, tool development
Naltrexone therapy of apnea in children with elevated cerebrospinal fluid beta-endorphin
Tags: 1990, Annals Of Neurology, beta-Endorphin/cerebrospinal fluid, Biomarkers of Pain, Brase D A, breathing difficulties, Child, Child Preschool, Dewey W L, Female, Humans, Infant, Infant Newborn, Leigh Disease/cerebrospinal fluid, Leigh syndrome, Male, Morris D L, Myer E C, Naltrexone, Naltrexone/therapeutic use, oral naltrexone, pharmacologic intervention, Prospective Studies, Sleep apnea, Sleep Apnea Syndromes/cerebrospinal fluid/drug therapy, Zimmerman A W
The prevalence and phenomenology of repetitive behavior in genetic syndromes
Tags: 2009, Adolescent, Adult, Angelman Syndrome/epidemiology/psychology, Arron K, behavioral problems, Berg K, Burbidge C, characteristics, Child, Child Preschool, Cri-du-chat, Cri-du-Chat Syndrome/epidemiology/psychology, De Lange syndrome, De Lange Syndrome/epidemiology/psychology, Female, Fragile X Syndrome/epidemiology/psychology, Humans, Intellectual Disability/epidemiology/genetics/psychology, Journal of Autism and Developmental Disorders, London, Male, Middle Aged, Moss J, Oliver C, Phenotype, Prader-Willi Syndrome/epidemiology/psychology, Prevalence, repetitive behavior, Stereotyped Behavior, Surveys And Questionnaires, Syndrome, tone and motor problems, Trajectory, Young Adult
Air swallowing in Rett syndrome
Tags: 2000, Adolescent, Adult, Aerophagy/di [Diagnosis], Aerophagy/pp [Physiopathology], Aerophagy/px [Psychology], air bloat, Apnea/di [Diagnosis], Apnea/pp [Physiopathology], Apnea/px [Psychology], Child, Child Preschool, Developmental Medicine and Child Neurology, Ellis R E, Feeding Behavior/ph [Physiology], feeding difficulties, Female, Fluoroscopy, gum shield, hollow tube, Humans, hyperventilation, Larynx/pp [Physiopathology], Morton R E, palatal training devices, physical intervention, Pinnington L, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/pp [Physiopathology], Rett Syndrome/px [Psychology], Risk Factors, Stress Psychological/co [Complications], Video Recording
Sleep in individuals with Cri du Chat syndrome: a comparative study
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
Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms
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
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
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
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
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
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
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
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Tags: 2011, Adams H, Adolescent, Adult, Analysis of Variance, Augustine E F, Beck C A, Child, Child Preschool, Cialone J, Cross-sectional Studies, Deblieck E A, Disabled Persons, Disease Progression, Dure L S, Genotype, Homozygote, Humans, Kwon J M, Levy E, Marshall F J, Membrane Glycoproteins, Mink J W, Molecular Chaperones, Mutation, NCL3, Neurology, Neuronal Ceroid-Lipofuscinoses, Neuropsychological Tests, Newhouse N J, Prospective Studies, Ramirez-Montealegre D, Regression Analysis, Reproducibility of Results, Rose K R, Rothberg P G, scale development, tone and motor problems, tool development, UBDRS, Vierhile A, Young Adult
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
Tags: 2006, Child Preschool, Contracture/di [Diagnosis], Contracture/pp [Physiopathology], Crawford T O, Disability Evaluation, HFMS, Humans, Infant, Krosschell K J, Maczulski J A, Male, Neuromuscular Disorders, Observer Variation, Reproducibility of Results, scale development, Scott C, Severity Of Illness Index, SMA1, Spinal Muscular Atrophies of Childhood/di [Diagnosis], Spinal Muscular Atrophies of Childhood/pp [Physiopathology], Swoboda K J, tone and motor problems, tool development, Videotape Recording
Further delineation of the behavioral and neurologic features in Costello syndrome
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