Browse Items (221 total)
- Tags: Young Adult
Symptoms and Suffering at the End of Life for Children and Young Adults with Life-Threatening Complex Chronic Conditions (S756)
Tags: 2020, Adult, Central Nervous System, Child, Chromosome, Chronic Disease, conference abstract, Data Analysis, DeCourcey D, Dyspnea, Female, Human, Journal of Pain and Symptom Management, Kao P C, Ma C, Major Clinical Study, Male, March 2020 List, Marcus K, Medical Technology, Pain, Prospective Study, Wolfe J, Young Adult
Telemedicine: the Pediatric Palliative Perspective (FR476)
Tags: 2020, Adult, Aggression, Bower K A, California, Child, Clinical Article, clinical assessment, conference abstract, Current Procedural Terminology, Drug Safety, Female, Human, Journal of Pain and Symptom Management, Kuelker A, laptop, logging, Male, Marc-Aurele K L, March 2020 List, Medicaid, Nurse, Palliative Therapy, Patient Comfort, physical examination, Stevens V, Telemedicine, vital sign, Young Adult
Trends in the aggressiveness of pediatric cancer near the end-of-life
Tags: 2018, Adult, aggressiveness, Artificial Ventilation, Cancer Patient, Child, Childhood Cancer, conference abstract, Controlled Study, Death, Diagnosis, Female, Fushimi K, Hematologic Malignancy, Human, Intubation, Japan, Major Clinical Study, Male, Matsumoto K, Oncology 2019 List, Pediatric Blood and Cancer, Resuscitation, School Child, Shinjo D, Terminal Care, Yotani N, Young Adult
Vulnerable Populations Receiving Palliative Radiation in a Children's Hospital: Reporting on the Underreported
Tags: 2019, Adult, Anesthesia, Asia, cancer radiotherapy, Central Nervous System Tumor, Child, conference abstract, Controlled Study, Death, electronic medical record, employer, Female, Follow Up, fraud, housing, Human, Hwang L, immigration, International Journal Of Radiation Oncology Biology Physics, Lee H J, Liu K X, lowest income group, Major Clinical Study, Male, Medical Record Review, Mental Stress, Neuroblastoma, Olch A J, Oncology 2019 List, Organization, Pain, Poverty, race, radiation oncologist, Radiotherapy, Retrospective Study, Rhabdomyosarcoma, School Child, South and Central America, Terminal Care, vulnerable population, Wong K, Young Adult
"It Could Have Been Me": An Interpretive Phenomenological Analysis of Health Care Providers' Experiences Caring for Adolescents and Young Adults with Terminal Cancer
Tags: 2019, Adult, Article, Canada, Clinician, Controlled Study, Drake E K, Health Care Delivery, Health Care Personnel, Human, Journal of adolescent and young adult oncology., Nurse, Oncology 2019 List, Semi Structured Interview, Terminal Care, Tutelman P R, Uncertainty, Urquhart R, Wellbeing, Young Adult
Impact of parental socioeconomic factors on childhood cancer mortality: a population-based registry study
Tags: 2018, Acta Oncologica, Adolescent, Child, Female, Finland/epidemiology, Humans, Income, Infant, Madanat-Harjuoja L, Male, Malila N, Mortality, Neoplasms/*mortality/therapy, Oncology 2019 List, Parents, Pitkaniemi J, Preschool, Rantanen M, Registries, Socioeconomic Factors, Taskinen M, Tolkkinen A, Young Adult
The 'good death' in pediatric oncology
Tags: 2019, Adult, Advanced Cancer, advanced practice provider, Aged, avoidance behavior, Barton K, Childhood Cancer, Clergy, Clinical Article, Cohort Analysis, conference abstract, Content Analysis, Controlled Study, Female, genetic transcription, Human, Male, Medical Staff, music, Oncology 2019 List, Pediatric Blood and Cancer, Pediatric Hospital, physiotherapist, Prospective Study, Rosenberg A, Semi Structured Interview, Software, sudden death, Taylor M, Terminal Care, Young Adult
End-of-Life Communication Needs for Adolescents and Young Adults with Cancer: Recommendations for Research and Practice
Tags: 2019, Adolescent, Adult, Article, Cohn R J, Controlled Study, Conversation, face cancer, Fardell J E, Human, Journal of adolescent and young adult oncology., Narrative, Oncology 2019 List, Pain, Palliative Therapy, Patterson P, Rosenberg A R, Sansom-Daly U M, Terminal Care, Wakefield C E, Wiener L, Young Adult
End-of-life care among adolescent and young adult patients with cancer living in poverty
Tags: 2019, Adolescent, Adult, Article, Bakitas M, Cancer, Cancer Patient, Cancer Therapy, Controlled Study, Currie E R, Female, Friedman S, Gilbertson-White S, Hospice, Hospital Patient, Human, Insurance, Lindley L C, lowest income group, Mack J W, Male, Medical Record, Multicenter Study, Oncology 2019 List, Palliative Therapy, Patient Referral, Poverty, Retrospective Study, Roeland E J, Saeidzadeh S, Statistical Significance, Terminal Care, Young Adult
High-intensity end-of-life care among children, adolescents, and young adults with cancer who die in the hospital: A population-based study from the French national hospital database
Tags: 2019, Adolescent, Adolescents, Adult, Andre N, Article, Auquier P, Baumstarck K, Bernard C, Boyer L, Cancer, Cancer Chemotherapy, Cancer Diagnosis, Cancer Patient, Child, Children, Cohort Analysis, Controlled Study, Emergency Care, Emergency Ward, End Of Life, Female, Fond G, France, Gentet J C, Hematologic Malignancy, Hospitalization, Human, Intensive Care Unit, Major Clinical Study, Male, Michel G, Multicenter Study, Oncology 2019 List, Orleans V, outcome assessment, Palliative Care, Palliative Therapy, Pauly V, Retrospective Study, Revon-Riviere G, Seyler C, Terminal Care, time of death, Young Adult, Young Adults
Medication utilization for symptom management by pediatric inpatients with cancer at end-of-life
Tags: 2019, Adult, anxiety, Benzodiazepine, Black person, Cancer Patient, Child, Childhood Cancer, conference abstract, Controlled Study, Davidoff A, Death, Decision Making, do not resuscitate order, Drug Therapy, Ethnicity, Female, Gender, Hospital Patient, Hospitalization, Human, Length Of Stay, Major Clinical Study, Male, manager, Massaro S, Medicaid, Multicenter Study, Nausea, Oncology 2019 List, Opiate, Pain, patient history of bone marrow transplantation, Pediatric Blood and Cancer, pediatric patient, Prozora S, Recipient, Retrospective Study, Shabanova V, solid malignant neoplasm, tumor diagnosis, University Hospital, Young Adult
Medical marijuana use for pediatric oncology patients: single institution experience
Tags: 2019, Adolescent, Adult, Adverse Drug Reaction, anxiety, Article, Bar-Sela G, burn, Cancer Patient, Cancer Therapy, Child, Childhood Cancer, Clinical Article, Drug Safety, Drug Therapy, Female, Human, Male, medical cannabis, Medical Marijuana, microcapsule, Mood, Nausea And Vomiting, Ofir R, Oncology 2019 List, Pain, Palliative Therapy, Pediatric Hematology and Oncology., Pediatric Oncology, Postovsky S, prescription, Side Effect, Sleep, smoke, Smoking, Supportive Care, throat, vaporization, Weyl Ben-Arush M, Young Adult
Utilizing a collaborative learning activity to sensitize interprofessional students to palliative care scopes of practice with adolescent and young adults
Tags: 2019, Adult, Article, collaborative learning, Education, graduate student, Health Care Personnel, Human, Interprofessional Relations, Interview, Jones B, Journal Of Interprofessional Care, Linton B, Lippe M, Malignant Neoplasm, Oncology, Oncology 2019 List, Palliative Care, Palliative Therapy, Professional, Professional Role, public relations, responsibility, Scope Of Practice, vulnerable population, Young Adult
Preferences regarding end-of-life care among adolescents and young adults with cancer: results from a comprehensive multicenter survey in Japan
Tags: 2019, adolescent and young adult, Adult, Adverse Drug Reaction, anxiety, Article, Cancer, Cancer Prognosis, Cancer Survival, cancer survivor, Cancer Therapy, Chemotherapy, Child, Controlled Study, End-of-life Care, Female, Health Care Personnel, Higuchi A, Hirano H, Horibe K, Human, Japan, Journal of Pain and Symptom Management, Kawachi A, Major Clinical Study, Male, Multicenter Study, Oncology 2019 List, Ozawa M, Palliative Therapy, patient history of chemotherapy, preference, Prognostic Disclosure, Questionnaire, Shimizu C, Shimizu K, Side Effect, Tatara R, Terminal Care, Yoshida S, Young Adult
An Exploratory Study into the Experience of Health Care Professionals Caring for Adolescents and Young Adults with Incurable Cancer
Tags: 2019, Adolescent, Adult, Article, Australia, Berger I, cancer center, challenges, enablers, Exploratory Research, Health Care Personnel, Health care professionals, Human, incurable disease, Joubert L, Journal of adolescent and young adult oncology., multidisciplinary, Oncology 2019 List, Semi Structured Interview, Thompson K, Young Adult
Children's and Parents' Conceptualization of Quality of Life in Children With Brain Tumors: A Meta-Ethnographic Exploration
Tags: 2019, Adaptation, Adolescent, Anthropology, Beecham E, Bluebond-Langner M, Brain Neoplasms/*psychology, Cancer, Child, Children, Coping, Cultural, enduring, Experiences, Female, Hargrave D, Health, Humans, Illness and Disease, Infant, Langner R, lived experience, Male, meta-ethnogrpahy, Metasynthesis, Method: interpretive methods, Oncology 2019 List, Parents/*psychology, Preschool, Psychological, psychosocial aspects, Qualitative Health Research, Qualitative Research, qualitative. Geographic: Taiwan, Quality Of Life, Quality of Life/*psychology, Resilience, Resistance, Survivorship, Young Adult
Multidiciplinary approach of transition into home care for peadiatric and AYA end-of life cancer patients: A single center experience
Tags: 2018, Adolescent, Adult, Arakawa A, cancer center, Cancer Patient, Cancer Staging, Child, Clinical Article, conference abstract, Controlled Study, Female, Home Care, Human, Ishiki H, Ishimaru S, Kumamoto T, Male, Nakajima M, Ogawa C, Oncology 2019 List, Pediatric Blood and Cancer, Retrospective Study, Satomi E, Shimizu M, Shirakawa N, Social Worker, Sonoda T, time of death, Young Adult
Assessment of a Mobile App by Adolescents and Young Adults With Cystic Fibrosis: Pilot Evaluation
Tags: 2019, Adolescence, Adolescent, Adult, Albrecht U V, Anthropometry, Article, Breathing, Child, chronic lung disease, Clinical Article, Controlled Study, Cystic Fibrosis, Disability, Dittrich A M, Dopfer C, February 2020 List, Female, Fuge J, Hansen G, Human, JMIR mHealth and uHealth, Junge S, Life Expectancy, life satisfaction, lung function, Male, mobile application, mobile phone, Nolte H, Pieper K, Quality Of Life, Questionnaire, responsibility, Ringshausen F C, Rudolf I, Sauer-Heilborn A, Self Care, Tummler B, von Jan U, Young Adult
Social media use in adolescents and young adults with serious illnesses: an integrative review
Development of student competencies for palliative care
Tags: 2019, Adolescent, Adult, Baccalaureate, Carreno S P, Carrillo G M, Clinical Competence, Colombia, Diaz L C, Education, February 2020 List, Female, Gomez O J, Hospice and Palliative Care Nursing/ed [Education], Humans, International Journal of Palliative Nursing, Interviews As Topic, Male, Nursing, Students, Surveys And Questionnaires, Young Adult
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome
Tags: 2012, Adolescent, Adult, Age, Aggression, aggressive behavior, anxiety, Behavior, behavioral problems, characteristics, Child, Congenital Anomalies, Depression, Factors, Female, Humans, Infant, Kosaki K, Kosaki R, Kurosawa K, Male, Mizuno S, Okamoto N, Preschool, Rubinstein-Taybi Syndrome, Rubinstein-Taybi Syndrome/di [Diagnosis], Sato Y, Surveys And Questionnaires, Takahashi T, Trajectory, Yagihashi T, Young Adult
Responsiveness of the motor function measure in neuromuscular diseases
Tags: 2012, Adolescent, Adult, Aged, Archives Of Physical Medicine And Rehabilitation, Berard C, Child, Disability Evaluation, Ecochard R, Female, Fermanian J, Girardot F, Humans, Iwaz J, Male, MFM, Middle Aged, Mobility Limitation, motor function measure, Motor Skills, Muscular Dystrophy Duchenne/physiopathology/rehabilitation, Neuromuscular Diseases/physiopathology/rehabilitation, Payan C, Perception, Physical Therapy Modalities, Prospective Studies, Q3 conditions, scale development, SMA1, tone and motor problems, tool development, Vuillerot C, Young Adult
The feasibility and validity of forced spirometry in ataxia telangiectasia
Tags: 2010, Adolescent, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], Ataxia Telangiectasia/pp [Physiopathology], Berkun Y, breathing difficulties, Case-Control Studies, characteristics, Child, Efrati O, Feasibility Studies, Female, Humans, Jacobson J M, Levi Y, lung deterioration, Male, Pediatric Pulmonology, Preschool, Reproducibility of Results, Spirometry, Trajectory, Vilozni D, Weiss B, Young Adult
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
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: An update
Tags: 2016, 7 dehydrocholesterol/ec [Endogenous Compound], 8 dehydrocholesterol/ec [Endogenous Compound], adaptive behavior, Adolescent, Adult, Aggression, Albert P, Article, Autism, automutilation, Behavior, Bianconi S, Bukelis I, Case Study, cerebrospinal fluid level, characteristics, Child, Child Rearing, childhood, cholesterol/ec [Endogenous Compound], Clinical Article, Cognition, delayed development, development, Developmental delay, Farmer C, Female, Human, Intelligence Quotient, Interpersonal Communication, Joseph L, Journal of Neurodevelopmental Disorders, Lanham D, Male, Observational Study, Parent, Porter F D, Preschool Child, Priority Journal, problem behavior, Sarphare G, Smith Lemli Opitz syndrome, Smith-Lemli-Opitz syndrome, Socialization, Stanford-Binet Intelligence Scale, Sterols, Swedo S, Thurm A, Tierney E, tone and motor problems, Trajectory, Unclassified Drug, Walking, Wassif C A, Wheeler C, Young Adult
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
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1
Tags: 2 hydroxypropyl beta cyclodextrin, 2018, 94035-02-6 (2 hydroxypropyl beta cyclodextrin), Adolescent, Adult, Alter K, Article, balance impairment, body equilibrium, case control study, characteristics, Child, Clinical Article, clinical evaluation, Comparative Study, coordination disorder, disease severity assessment, Farhat N, Female, gait disorder, Human, Human Development, intervention study, Journal of Child Neurology, Keener L A, Male, molecular stability, motion analysis system, Neurologic Examination, Niemann Pick disease, NIH NPC Neurologic Severity Scale, NPC, outcome assessment, performance, Porter F, Preschool Child, Priority Journal, Research, Retrospective Study, Sansare A, School Child, scoring system, spatiotemporal analysis, stabilography, Stanley C, tone and motor problems, Trajectory, Upper limb, vts 270, Young Adult, Zampieri C
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
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
Supplementation with carnitine reduces the severity of constipation: A retrospective study of patients with severe motor and intellectual disabilities
Tags: 102767-28-2 (levetiracetam), 1069-66-5 (valproic acid), 1309-48-4 (magnesium oxide), 1317-74-4 (magnesium oxide), 14093-02-8 (iron), 14378-32-6 (zinc), 146-22-5 (nitrazepam), 1622-61-3 (clonazepam), 2017, 22316-47-8 (clobazam), 298-46-4 (carbamazepine), 461-06-3 (carnitine), 50-06-6 (phenobarbital), 53858-86-9 (iron), 541-15-1 (carnitine), 56-99-5 (carnitine), 57-30-7 (phenobarbital), 57-88-5 (cholesterol), 59-30-3 (folic acid), 6484-89-5 (folic acid), 68291-97-4 (zonisamide), 7439-89-6 (iron), 7440-66-6 (zinc), 7782-49-2 (selenium), 8028-68-0 (phenobarbital), 8047-84-5 (carbamazepine), 84057-84-1 (lamotrigine), 99-66-1 (valproic acid), acute brain disease, Adult, albumin, albumin blood level, anticonvulsant therapy, Aomatsu T, Article, bacterial meningitis, bed rest, body mass, brain infarction, carbamazepine/dt [Drug Therapy], carnitine, carnitine deficiency, carnitine deficiency/dt [Drug Therapy], carnitine/dt [Drug Therapy], Cerebral Palsy, Child, cholesterol blood level, cholesterol/ec [Endogenous Compound], Clinical Article, Clinical Trial, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], Constipation, constipation/dt [Drug Therapy], constipation/pc [Prevention], Controlled Study, copper blood level, cupric ion/ec [Endogenous Compound], diet supplementation, Disease Severity, Endogenous Compound, enema/dt [Drug Therapy], enteric feeding, epilepsy/dt [Drug Therapy], Female, folic acid, folic acid blood level, folic acid/ec [Endogenous Compound], Gene Expression, groups by age, Hospital, Human, Human Tissue, infantile spasm, Inoue K, Intellectual Impairment, iron blood level, iron/ec [Endogenous Compound], Journal of Clinical Biochemistry and Nutrition, lamotrigine/dt [Drug Therapy], levetiracetam/dt [Drug Therapy], magnesium oxide/dt [Drug Therapy], Male, Medical Record Review, Middle Aged, motor dysfunction, Murata S, NCL3, neuronal ceroid lipofuscinosis, nitrazepam/dt [Drug Therapy], Pelizaeus Merzbacher disease, Pelizaeus- Merzbacher disease, periventricular leukomalacia, pharmacologic intervention, phenobarbital/dt [Drug Therapy], prealbumin, prealbumin/ec [Endogenous Compound], Preschool Child, Retrospective Study, School Child, selenium blood level, selenium/ec [Endogenous Compound], sex difference, Tamai H, trace element, Tuberous Sclerosis, valproic acid, valproic acid/dt [Drug Therapy], West syndrome, Yoden A, Young Adult, zinc/ec [Endogenous Compound], zonisamide/dt [Drug Therapy]
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
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
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
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
Balloon dilatation in esophageal strictures in epidermolysis bullosa and the role of anesthesia
Tags: 2017, Adolescent, Adult, Anesthesia, Article, Ates U, Balloon dilatation, Can O S, Child, Clinical Article, Clinical Effectiveness, colon interposition, digestive endoscope, Dindar H, Diseases of the Esophagus, Dysphagia, endoscopic balloon dilatation, epidermolysis bullosa, Ergun E, esophagus balloon, esophagus perforation, esophagus stenosis/co [Complication], esophagus stenosis/th [Therapy], feeding difficulties, Female, Gastrostomy, Gollu G, Human, Male, Patient Safety, Preschool Child, Priority Journal, Retrospective Study, School Child, surgical intervention, Young Adult
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
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
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
Tags: 2017, Adolescent, Adult, Aged, Aguilera-Albesa S, Behavior, Castro C A, Child, Coelho M, Cognitive Dysfunction/di [Diagnosis], Cognitive Dysfunction/et [Etiology], Correia G L, Costa C, Cross-sectional Studies, Cuadras P D, Darling A, Disabled Persons, dystonia/di [Diagnosis], Dystonia/et [Etiology], Espinos C, Ferreira J, Garcia P J, Garrido C, Gaston I, Gavilan I T, Gonzalez G L, Gutierrez F, Hernandez L C, Humans, IND, Lin J P, Lorenzo S G, Lupo V, Madruga M, Magalhaes M, Marti M J, Marti S L, Martinez-Martin P, Martorell L, Mental Disorders/di [Diagnosis], Mental Disorders/et [Etiology], Middle Aged, Moreira F, Movement Disorders, Nardocci N, Ocular Motility Disorders/di [Diagnosis], Ocular Motility Disorders/et [Etiology], Ortigoza E J D, Pantothenate Kinase-Associated Neurodegeneration/co [Complications], Pantothenate Kinase-Associated Neurodegeneration/di [Diagnosis], Pantothenate Kinase-Associated Neurodegeneration/ge [Genetics], Parkinsonian Disorders/di [Diagnosis], Parkinsonian Disorders/et [Etiology], Perez D B, Pilot Projects, Pires P, PKANDRS, Pons R, Pujol M, Ramos L J, Rego P, Reproducibility of Results, Rodriguez-Blazquez C, scale development, Severity Of Illness Index, Stamelou M, Stefanis L, Tello C, Temudo T, Tomas V M, tone and motor problems, tool development, Tustin K, Vela L, Young Adult, Zorzi G
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
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
Parental assessment of comfort in newborns affected by life-limiting conditions treated by a standardized neonatal comfort care program
Tags: 2018, Adult, Byrne M, Daho M, Female, Foe G, Humans, Infant, Intensive Care, Journal Of Perinatology, Male, Neonatal/og [Organization & Administration], New York, Newborn, November 2019 List, Palliative Care/mt [methods], Parents/px [psychology], Parravicini E, Patient Care Team/og [Organization & Administration], Patient Comfort/st [Standards], Practice Guidelines As Topic, Prospective Studies, Qualitative Research, Steinwurtzel R, Surveys And Questionnaires, Young Adult