Browse Items (29 total)
- Tags: Syndrome
Intrathecal baclofen therapy as treatment for spasticity and dystonia: Review of cases in a pediatric palliative care unit
Tags: 2024, Adolescent, Adult, Alba RM, alert, antibiotic agent/dt [Drug Therapy], antibiotic agent/iv [Intravenous Drug Administration], Article, Baclofen/dt [drug Therapy], baclofen/po [Oral Drug Administration], baclofen/pv [Special Situation for Pharmacovigilance], baclofen/tl [Intrathecal Drug Administration], benzodiazepine derivative/dt [Drug Therapy], benzodiazepine derivative/po [Oral Drug Administration], benzodiazepine derivative/pv [Special Situation for Pharmacovigilance], botulinum toxin/dt [Drug Therapy], Brain Damage, catheter, Cerebral Palsy, Child, Clinical Article, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], Congenital Malformation, continuous infusion, de Noriega Echevarria I, Descriptive Research, diazepam/dt [Drug Therapy], disease classification, drug dose increase, drug dose reduction, dystonia/dt [Drug Therapy], enzyme deficiency, Errasti VI, Female, glutaric aciduria, glutaric aciduria type 1, Gross Motor Function Measure, Human, implantation, intrathecal baclofen pump/am [Adverse Device Effect], intrathecal pump, Male, medical device malfunction/co [Complication], meningitis/dt [Drug Therapy], nerve degeneration, Neurologia, November List 2024, Palliative Therapy, pantothenate kinase/ec [Endogenous Compound], Pediatrics, Perez MMA, poly malformative syndrome, Preschool Child, Puertas MV, reservoir, Retrospective Study, School Child, spasticity/dt [Drug Therapy], STATA v16.0, Syndrome, tizanidine/dt [Drug Therapy], tizanidine/po [Oral Drug Administration], tizanidine/pv [Special Situation for Pharmacovigilance], trihexyphenidyl/dt [Drug Therapy], trihexyphenidyl/po [Oral Drug Administration], trihexyphenidyl/pv [Special Situation for Pharmacovigilance], Young Adult
Impact of an outpatient palliative care consultation and symptom clusters in terminal patients at a tertiary care center in Pakistan
Tags: 2023, 2023 SE5 - Low Resource Setting, Ahmed IM, BMC Palliative Care, Female, Hashmi S, Humans, Infant, Jabeen I, Male, Neoplasms, Neoplasms/co [complications], Neoplasms/ep [Epidemiology], Neoplasms/th [therapy], Outpatients, Pakistan, Palliative Care, Qamar U, Quality Of Life, Rafaqat W, Rajwani S, Referral And Consultation, Syed AR, Symptom Assessment, Syndrome, Tertiary Care Centers, Waqar MA
National Survey of Sibling Support Services in Children's Hospitals
Tags: 2022, Akard TF, Article, Burley SR, CARE, Child, Comfort, Distress, Education, Franklin QM, Human, Life, Mooney-Doyle K, October 2022 List, Palliative, Palliative Care, Pediatric, Progress in Palliative Care., psychosocial, psychosocial support, Quality Of Life, Root MC, Serious Illness, Sibling, Siblings, Syndrome, Teaching, Therapy, United States
A Investigation into Hope, Self-Efficacy, Distress and Uncertainty in Parents Who Have A Child with A Life-Threatening or Life-Limiting Illness
Tags: 2022, Article, Bally J, Behavior, Burles M, CARE, Caregiver, Child, Children, Controlled Study, Demographics, Distress, exploratory, Families, financial management, Hope, Human, Journal of Pediatric Nursing, life-limiting illness, Life-threatening illness, McHaro K, Nurse, October 2022 List, parental leave, Pediatric, quantitative analysis, Research, Self Concept, Self-efficacy, Spurr S, Syndrome, Uncertainty
Anti-parkinson drugs in the Batten-Spielmeyer-Vogt syndrome; a pilot trial
Tags: 1982, Adolescent, Adult, amantadine, Amantadine/therapeutic use, Antiparkinson Agents/therapeutic use, Benserazide/therapeutic use, Clinical Neurology and Neurosurgery, Drug Combinations/therapeutic use, Humans, Levodopa/therapeutic use, Lipidoses/drug therapy, madopar, NCL3, orfenadrine, pharmacologic intervention, Psychoses Substance-Induced/etiology, Syndrome, tone and motor problems, van der Zee H J, van Nieuwenhuizen O, Zweije-Hofman I L
Effect of hand splints on stereotypic hand behavior of three girls with Rett syndrome
Tags: 1988, Adolescent, Autistic disorder, Billingsley F F, Child, Female, finger-feeding skills, Hand, hand splints, Humans, Intellectual Disability, Naganuma G M, Neuromuscular Diseases/rehabilitation, physical intervention, Physical Therapy, Rett syndrome, splints, Stereotyped Behavior, stereotypic hand behavior, Syndrome, Thumb abduction splints, tone and motor problems
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
Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study
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
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
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
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
The use of Melatonin in children with Neurodevelopmental Disorders and impaired Sleep: a randomised, double-blind, placebo-controlled, parallel study (MENDS)
Tags: 2012, Appleton R E, autism spectrum disorders, Barker C, CONTROLLED-TRIAL, exogenous melatonin, Gamble C, Gringras P, handicapped-children, Health Care Sciences & Services, Health Technology Assessment, improves sleep, insomnia, Jones A P, melatonin, Montgomery P, neurodevelopmental disorders, onset, pharmacologic intervention, phase, rett-syndrome, serum melatonin, sleep disturbance/disorders, Sutcliffe A, Syndrome, Wiggs L, Williamson P R, young-adults
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009
Tags: 2010, Backlog, Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, Engel J, Epilepsia, Epilepsy/classification/diagnosis/etiology, French J, Glauser TA, Humans, International Agencies, Journal Article, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE, Seizures/classification/diagnosis/etiology, Syndrome, Terminology as Topic, van Emde BW
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
Tags: 2008, Abdel-Ghaffar TY, Backlog, Bolz HJ, Child, Congenital/diagnosis/genetics, Ebermann I, Elsayed SM, Elsobky E, Female, Homozygote, Humans, Infant, Journal Article, Liver Diseases/genetics/physiopathology, Male, Mutation, Neurology, Nurnberg G, Nurnberg P, Pain Insensitivity, Pedigree, Sodium Channels/genetics, Syndrome
Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy
Tags: 2006, Adaptation, Adolescent, Adult, Backlog, Camfield CS, Camfield PR, Caregivers/psychology, Child, Chronic Disease, Developmental Medicine and Child Neurology, Epilepsy/nursing/psychology, Family Health, Female, Humans, Journal Article, Male, Middle Aged, Nolan KJ, Parent-child Relations, Parents/psychology, Preschool, Psychological, Psychological/psychology, Q3 Scoping Review Results, Seizures/nursing/psychology, Severity Of Illness Index, Social Isolation, Social Support, Stress, Syndrome
The syndrome of cardiac cachexia
Predictors of psychosocial distress after suicide, SIDS and accidents
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
Tags: 2003, American Journal Of Human Genetics, Amino Acid Sequence, Backlog, Base Sequence, Bonafe L, Child, Chromosome Mapping, Davis GE, Difeo A, Dowling O, Exons, Female, Fibroma/genetics, Focal/genetics, Genes, Genetic Markers, Glomerulosclerosis, Glucksman MJ, Grum-Tokars V, Humans, Infant, Journal Article, Kayserili H, Male, Martignetti JA, Martin GS, Membrane Proteins/genetics, Missense, Models, Molecular, Mutation, Narla G, Norton K, P.H.S., Paller AS, Pedigree, Protein Conformation, Protein Structure, Ramirez MC, Recessive, Research Support, Secondary, Syndrome, Teebi AS, Tukel T, U.S. Gov't, Yuksel-Apak M
Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis
Tags: 1986, Backlog, Chromosome Aberrations/genetics/pathology, Chromosome Disorders, Contracture/genetics/pathology, Female, Fibromatosis, Gastrointestinal Diseases/pathology, Genes, Gingival/genetics/pathology, Humans, Hyalin/metabolism, Infant, Intestinal Mucosa/pathology, Journal Article, Landing BH, Nadorra R, Pediatric Pathology / Affiliated With The International Paediatric Pathology Association, Recessive, Skin Diseases/pathology, Skin/pathology, Syndrome
Liver involvement in Alpers disease
Tags: 1991, Backlog, Beckwith B, Biopsy, Brain/pathology, Child, Diffuse Cerebral Sclerosis of Schilder/diagnosis/metabolism/pathology, Female, Humans, Infant, Journal Article, Liver Function Tests, Liver/metabolism/pathology, Male, Narkewicz MR, Preschool, Q3 Scoping Review Results, Silverman A, Sokol RJ, Sondheimer J, Status Epilepticus/diagnosis/metabolism/pathology, Syndrome, The Journal Of Pediatrics
Follow-up in children with Joubert syndrome
Tags: 1997, Adolescent, Adult, Ataxia/diagnosis/genetics/physiopathology, Backlog, Boltshauser E, Cerebellum/abnormalities, Child, Cross-sectional Studies, Developmental Disabilities/diagnosis/genetics/physiopathology, Disease Progression, Disease Specific, Facies, Female, Follow-up Studies, Humans, Infant, Journal Article, Kidney Diseases/complications, Landau K, Male, Mental Retardation/complications, Mesencephalon/abnormalities, Muscle Hypotonia/diagnosis/genetics/physiopathology, Neuropediatrics, Newborn, Ocular Motility Disorders/complications, Preschool, Respiration Disorders/complications, Retrospective Studies, Schmid M, Steinlin M, Survivors/classification, Syndrome
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates
Tags: 2000, Analgesics, Backlog, Bone Density/physiology, Bone/complications/physiopathology, Child, Clodronate, Clodronic Acid/administration & dosage, Cundy T, Diphosphonates/administration & dosage, Female, Fractures, Growth, Humans, Infusions, Intravenous, Journal Article, Male, Non-Narcotic/administration & dosage, Non-U.S. Gov't, Osteoporosis/complications/drug therapy/physiopathology, Pain/prevention & control, Research Support, Spine/physiopathology, Syndrome, The Journal Of Pediatrics, Vision Disorders/complications, Zacharin M
Benzodiazepine dependence and withdrawal: a review of the syndrome and its clinical management
Tags: 1998, Acta Psychiatrica Scandinavica, Supplementum, Animal, Anti-Anxiety Agents, Anxiety Disorders/dt [Drug Therapy], Anxiety Disorders/px [Psychology], Backlog, Benzodiazepine, Benzodiazepine/ae [Adverse Effects], Benzodiazepine/tu [Therapeutic Use], Human, Journal Article, Rickels K, Schweizer E, Substance Withdrawal Syndrome/di [Diagnosis], Substance Withdrawal Syndrome/rh [Rehabilitation], Substance-Related Disorders/di [Diagnosis], Substance-Related Disorders/rh [Rehabilitation], Syndrome, Treatment Outcome
Natural history of trisomy 13
Tags: 1994, Adult, Archives of Disease in Childhood, Backlog, Burn J, Chromosomes, Congenital/diagnosis/genetics/mortality, England/epidemiology, Female, Fetal Diseases/diagnosis, Heart Defects, Human, Humans, Hunter S, Incidence, Infant, Journal Article, Longitudinal Studies, Male, Neural Tube Defects/diagnosis/genetics/mortality, Newborn, Pair 13, Pregnancy, Prenatal Diagnosis, Syndrome, Trisomy, Wright MJ, Wyllie JP
Chronic musculoskeletal and other idiopathic pain syndromes
Tags: 2001, Adolescent, Archives of Disease in Childhood, Attitude To Health, Backlog, Bennett SM, Child, Chronic Disease, Cognitive Therapy, Connell H, Eccleston C, Female, Humans, Journal Article, Male, Malleson PN, Musculoskeletal Diseases/complications/psychology/therapy, Pain/etiology/psychology/therapy, Parent-child Relations, Patient Care Team, Risk Factors, Syndrome
Current concepts of cerebral malformation syndromes
Tags: 1999, Backlog, Barkovich AJ, Brain Diseases/diagnosis/pathology/physiopathology, Cerebral Palsy/diagnosis/pathology/physiopathology, Child, Current Opinion In Pediatrics, Human, Journal Article, Lequin MH, Magnetic Resonance Imaging, Muscular Dystrophies/diagnosis/pathology/physiopathology, Nervous System Malformations/diagnosis/pathology/physiopathology, Syndrome