Browse Items (72 total)
- Tags: Child Preschool
Early mortality in children with acute lymphoblastic leukemia in a developing country: the role of malnutrition at diagnosis. A multicenter cohort MIGICCL study
Tags: 2017, Adolescent, Age Factors, Alvarez-Rodriguez FJ, Amador-Sanchez R, Body Weights and Measures, Bolea-Murga V, Cardenas-Cardos R, Child, Child Preschool, Children, Comorbidity, de Diego Flores-Chapa J, Developing Countries, Developing World 2018 List, Dorantes-Acosta EM, Duarte-Rodriguez DA, Espinosa-Elizondo RM, Fajardo-Gutierrez A, Female, Flores-Lujano J, Flores-Villegas LV, Gil-Hernandez AE, Gonzalez-Bonilla CR, Humans, Infant, Infant Newborn, Jimenez-Hernandez E, Leukemia, Leukemia & Lymphoma, Male, malnutrition, Malnutrition/diagnosis/epidemiology, Martin-Trejo JA, Martinez-Avalos A, Medina-Sanson A, Mejia-Arangure JM, Mexico/epidemiology, Mortality, Nunez-Enriquez JC, Nunez-Villegas NN, Paredes-Aguilera R, Penaloza-Gonzalez JG, Perez-Saldivar ML, Population Surveillance, Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology/ mortality/therapy, Prevalence, Prognosis, Proportional Hazards Models, Rangel-Lopez A, Remission Induction, Reyes-Zepeda NC, Rivera-Luna R, Rodriguez-Zepeda MD, Socioeconomic Factors, Torres-Nava JR, Velazquez-Avina MM
End-of-Life Care: Consensus Statement by Indian Academy of Pediatrics
Tags: 2017, Academies and Institutes, Bangal R, Child, Child Preschool, Consensus, Developing World 2018 List, Family, Humans, India, Indian Pediatrics, Infant, Infant Newborn, Kumar V, Mishra S, Mukhopadhyay K, Pediatrics/methods/organization & administration/standards, Resuscitation Orders, Sachdeva A, Terminal Care, Tiwari S, Yadav BS
End-of-Life Treatments in Pediatric Patients at a Government Tertiary Cancer Center in India
Tags: 2018, Adolescence, Analgesics Opioid -- Therapeutic Use, Antianxiety Agents Benzodiazepine -- Therapeutic Use, Brun Eva, Cancer Care Facilities -- India, Child, Child Preschool, Childhood Neoplasms -- Diagnosis, Childhood Neoplasms -- Drug Therapy, Childhood Neoplasms -- Mortality, Childhood Neoplasms -- Prognosis, Delirium -- Symptoms, Developing World 2018 List, Dyspnea -- Symptoms, Hematologic Neoplasms -- Diagnosis, Hemorrhage -- Symptoms, Hospital Mortality, Hospitals Pediatric, Human, India, Infant, Infant Newborn, Inpatients, Jacob J, Journal of Palliative Medicine, Matharu Jaskirt K, Pain -- Symptoms, Palat G, Palliative Care, Patient Admission, Record Review, Referral And Consultation, Retrospective Design, Segerlantz M, Seizures -- Symptoms, Sinha S, Survival, Terminal Care -- In Infancy and Childhood, tertiary health care, Wiebe T
Sick leave among parents of children with cancer - a national cohort study
Tags: 2017, Acta Oncologica, Adolescent, Adult, Child, Child Preschool, Cohort Studies, Female, Follow-up Studies, Hed MI, Hjelmstedt S, Hoven E, Humans, Infant, Infant Newborn, Lindahl NA, Male, Montgomery S, Neoplasms/diagnosis/epidemiology/psychology, Oncology 2018 List, Only Child, Parents/psychology, Prognosis, Registries, Sick Leave, Sick Leave/statistics & numerical data, Sweden/epidemiology
Parents of children diagnosed with cancer: work situation and sick leave, a five-year post end-of-treatment or a child's death follow-up study
Tags: 2016, Acta Oncologica, Adolescent, Adult, Bereavement, Cernvall M, Child, Child Preschool, Fathers/psychology/statistics & numerical data, Female, Follow-up Studies, Hoven E, Humans, Infant, Infant Newborn, Ljungman G, Ljungman L, Male, Mothers/psychology/statistics & numerical data, Neoplasms/economics/mortality/psychology/therapy, Oncology 2018 List, Sick Leave/statistics & numerical data, Survival Rate, Survivors, Sweden, Treatment Outcome, von Essen L, Wikman A
Children Enrolled in Hospice Care Under Commercial Insurance: A Comparison of Different Age Groups
Tags: 2019, Academic Medical Centers -- Pennsylvania, Adolescence, Age Factors, American Journal of Hospice & Palliative Medicine, Analysis of Variance, Chi Square Test, Child, Child Preschool, Chronic Disease -- Classification -- In Infancy and Childhood, Cohrs A C, Comparative Studies, Cross Sectional Studies, Data Analysis Software, Descriptive Statistics, Female, Funding Source, Geographic Factors, Health Care Costs, Health Resource Utilization, Hospice Care -- Economics -- In Infancy and Childhood, Hospice Patients -- Psychosocial Factors, Human, Infant, Insurance Health, Keim-Malpass J, Length Of Stay, Leslie D L, Lindley Lisa C, Male, March 2019 List, Pearson's Correlation Coefficient, Pediatric Care, Pennsylvania, Prospective Studies, Retrospective Design, Sex Factors
Perceptions of discrimination among Mexican American families of seriously ill children
Who are the children using hospice care?
Tags: 2014, Adolescent, April 2019 List, California, Child, Child Preschool, Female, Health Services Needs and Demand/og [Organization & Administration], Health Services Needs and Demand/sn [Statistics & Numerical Data], Hospice Care/mt [Methods], Hospice Care/sn [statistics & Numerical Data], Humans, Infant, Infant Newborn, Journal for Specialists in Pediatric Nursing, Lindley LC, Male, Neuromuscular Diseases/nu [Nursing], Nurse-patient Relations, Palliative Care/mt [methods], Palliative Care/sn [Statistics & Numerical Data], Pediatric Nursing/mt [methods], Pediatric Nursing/sn [Statistics & Numerical Data], Professional-family Relations, Shaw SL, Socioeconomic Factors, Young Adult
Caregiver Perceptions about their Decision to Pursue Tracheostomy for Children with Medical Complexity
Tags: 2018, Adolescent, Adult, Caregivers/psychology, Child, Child Preschool, Death, Decision Making, Decision-making, Disabled Children, Female, Golden SL, Gower WA, Grandparents/psychology, home care services, Humans, Infant, Journal of Pediatrics, King NMP, Life-sustaining treatments, Male, May 2019 List, Middle Aged, Nageswaran S, Outcomes, Parents/psychology, Pediatrics, Qualitative Research, Quality Of Life, Tracheostomy, Young Adult
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes
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
Cognitive abilities of patients with Lesch-Nyhan disease
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
Social and behavioral problems of children with agenesis of the corpus callosum
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
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
Melatonin treatment in individuals with intellectual disability and chronic insomnia: a randomized placebo-controlled study
Tags: 2008, Adolescent, Adult, Aged, Braam W, Central Nervous System Depressants/adverse effects/therapeutic use, Child, Child Preschool, chromosome 18q deletion, Chronic Disease, Comorbidity, Curfs L, Didden R, Double-Blind Method, Female, Humans, Journal Of Intellectual Disability Research, Male, melatonin, Melatonin/adverse effects/therapeutic use, Mental Retardation/epidemiology/psychology, Middle Aged, MPS III, pharmacologic intervention, Q3 Scoping Review Results, Saliva, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/drug therapy/epidemiology/psychology, Smits M, Time Factors, Treatment Outcome
Sleep disorders in tuberous sclerosis: a polysomnographic study
Melatonin appears ineffective in children with intellectual deficits and fragmented sleep: six "N of 1" trials
Tags: 1996, Adolescent, Camfield C, Camfield P, Child, Child Preschool, Dooley J, Double-Blind Method, Female, Gordon K, Humans, Intellectual Disability/complications, Journal of Child Neurology, Male, melatonin, Melatonin/therapeutic use, neurodevelopmental disorder, pharmacologic intervention, sleep disturbance/disorders, Sleep Wake Disorders/drug therapy/etiology, undefined neurodevelopmental disorders
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
Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome
Tags: 1997, Adjustment Disorders/etiology, Adolescent, Adult, Aggression, Analysis of Variance, behavioral problems, characteristics, Child, Child Preschool, Child Behavior Disorders/etiology, Clarke D J, Cri-du-chat, Cri-du-Chat Syndrome/genetics/psychology, Developmental Medicine and Child Neurology, Dykens E M, Female, Gene Deletion, Humans, hyperactivity, impulsivity, Intellectual Disability/psychology, low mood, Male, Mental Disorders/etiology, Mood, pain behaviors, Psychiatric Status Rating Scales, repetitive language use, Risk Factors, self-injury, Surveys And Questionnaires, Trajectory, Translocation Genetic
Sleep disturbance in Mowat-Wilson syndrome
Tags: 0 (Homeodomain Proteins), 0 (Repressor Proteins), 0 (ZEB2 protein human), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Australia, Behavior Rating Scale, characteristics, Child, Child Preschool, Einfeld S, Evans E, Facies, Female, Gene Expression, Hirschsprung Disease/co [Complications], Hirschsprung Disease/di [Diagnosis], Hirschsprung Disease/ge [Genetics], Hirschsprung Disease/pp [Physiopathology], Homeodomain Proteins/ge [Genetics], Humans, Intellectual Disability/co [Complications], Intellectual Disability/di [Diagnosis], Intellectual Disability/ge [Genetics], Intellectual Disability/pp [Physiopathology], Male, Microcephaly/co [Complications], Microcephaly/di [Diagnosis], Microcephaly/ge [Genetics], Microcephaly/pp [Physiopathology], Middle Aged, Mowat D, Mowat-Wilson syndrome, Mutation, Repressor Proteins/ge [Genetics], Severity Of Illness Index, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/co [Complications], Sleep Initiation and Maintenance Disorders/di [Diagnosis], Sleep Initiation and Maintenance Disorders/ge [Genetics], Sleep Initiation and Maintenance Disorders/pp [Physiopathology], Surveys And Questionnaires, Trajectory, Wilson M
Rett syndrome and associated movement disorders
Tags: 1990, Adolescent, Adult, characteristics, Child, Child Preschool, Female, FitzGerald P M, gait disturbance, Humans, Infant, Jankovic J, Movement Disorders, Movement Disorders/etiology/physiopathology, Percy A K, Rett syndrome, Rett Syndrome/complications/physiopathology, Stereotyped Behavior, stereotypy, tone and motor problems, Trajectory
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Tags: 2005, Adolescent, Adult, Age of Onset, Archives of Disease in Childhood, Behavior Therapy, Benzodiazepines, characteristics, Child, Child Preschool, Delatycki M B, Fraser J, Gason A A, Humans, Incidence, Infant, Infant Newborn, melatonin, Melatonin/therapeutic use, MPS III, Mucopolysaccharidosis III/psychology, Preschool, Q3 Scoping Review Results, Questionnaires, Sleep Disorders/epidemiology/etiology/therapy, sleep disturbance/disorders, Trajectory, Treatment Outcome, Wraith J E
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
Melatonin for sleep problems in children with neurodevelopmental disorders: randomised double masked placebo controlled trial
Tags: 2012, Adolescent, Allport T, Appleton R, British Medical Journal, Central Nervous System Depressants/administration & dosage/adverse effects, Central Nervous System Diseases/complications, Child, Child Preschool, Child Behavior/drug effects, Choonara I, Developmental Disabilities/complications, Dose-Response Relationship Drug, Drug Monitoring, Edmond A, Family Health, Female, Gamble C, Gringras P, Humans, Jones A P, Male, melatonin, Melatonin/administration & dosage/adverse effects, Montgomery P, pharmacologic intervention, Polysomnography/methods, Q3 conditions, Severity Of Illness Index, sleep disturbance/disorders, Sleep Wake Disorders/diagnosis/drug therapy/etiology, Sleep/drug effects, Sutcliffe A, Treatment Outcome, unspecified Q3 conditions, Whitehouse W P, Wiggs L, Williamson P R
Self-injurious behaviour in young children with Lesch-Nyhan syndrome
Tags: 2001, behavioral problems, characteristics, Child Preschool, Developmental Medicine and Child Neurology, Environment, Extinction Psychological, Hall S, Humans, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/diagnosis/prevention & control, Male, Murphy G, Oliver C, Self-Injurious Behavior/prevention & control, self-injury, Severity Of Illness Index, Sign Language, Trajectory
Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin
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]
Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex
Tags: 2005, Administration Oral, Adult, Antioxidants/pharmacology/therapeutic use, Child, Child Preschool, Cross-Over Studies, Dose-Response Relationship Drug, Double-Blind Method, Female, Hancock E, Humans, Infant, Journal of Child Neurology, Male, melatonin, Melatonin/pharmacology/therapeutic use, O'Callaghan F, Osborne J P, pharmacologic intervention, sleep disturbance/disorders, Sleep Wake Disorders/drug therapy/etiology, Treatment Outcome, Tuberous Sclerosis, Tuberous Sclerosis/complications
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
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
Development, behaviour and seizures in 300 cases of tuberous sclerosis
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
Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire-based study
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
Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome
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
Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group
Tags: 1993, Browne R H, Buncher C R, characteristics, Child, Child Preschool, facial weakness, Female, Humans, Iannaccone S T, Infant, Male, Motor Skills/physiology, Muscle Contraction/physiology, Neurologic Examination, Pediatric Neurology, Prospective Studies, Range of Motion Articular/physiology, Reflex Stretch/physiology, Samaha F J, SMA1, Spinal Muscular Atrophies of Childhood/diagnosis/physiopathology, Sucking Behavior/physiology, tone and motor problems, tongue fasciculation, Trajectory
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
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
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
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
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
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
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
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
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 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