Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Use of melatonin to treat sleep disorders in tuberous sclerosis
Serotonergic approaches to the modification of behavior in the Lesch-Nyhan syndrome
Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate
Tags: 0 (Antiparkinson Agents), 2013, Adolescent, amantadine sulfate, Amantadine/tu [Therapeutic Use], Antiparkinson Agents/Antiparkinson [Therapeutic Use], ataxia telangiectasia, Ataxia Telangiectasia/co [Complications], Ben-Zeev B, BF4C9Z1J53 (Amantadine), Child, Disability, Evaluation, Hassin-Baer S, Humans, Journal of Child Neurology, Lerman S F, Levi Y B, Movement Disorders/dt [Drug Therapy], Movement Disorders/et [Etiology], Neurologic Examination, Nissenkorn A, pharmacologic intervention, Preschool, Prospective Studies, Severity Of Illness Index, tone and motor problems, Tzadok M
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
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
Tags: 2017, angelman-syndrome, behavioral problems, bowel incontinence, characteristics, Children, Constipation, Curfs L, Education & Educational Research, Einfeld S, enuresis, Equit M, features, fecal incontinence, hirschsprungs-disease, Mowat D, Mowat-Wilson syndrome, Niemczyk J, Phenotype, psychopathology, Rehabilitation, Research in Developmental Disabilities, Trajectory, urinary incontinence, urinary-incontinence, von Gontard A, Wagner C
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
Disturbances of Rapid-Eye-Movement Sleep in 3 Brothers with Pelizaeus-Merzbacher Disease
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
A Longitudinal Follow-Up Study of Affect in Children and Adults With Cornelia de Lange Syndrome
Tags: 2014, Affect, American Journal on Intellectual and Developmental Disabilities, autistic, Behavior, behavioral phenotypes, behavioral problems, behavioral-phenotype, characteristics, Cornelia de Lange syndrome, Cri-du-chat, De Lange syndrome, delange-syndrome, Education & Educational Research, Follow-up, fragile-x-syndrome, genetic syndromes, genotype-phenotype correlations, interest, Longitudinal, mental-retardation, Mood, Moss J, Nelson L, Oliver C, PERVASIVE DEVELOPMENTAL DISORDERS, pleasure, Rehabilitation, spectrum disorders, Trajectory, williams-syndrome
Botulinum Toxin Type A for the Treatment of Equinus Deformity in Patients With Mucopolysaccharidosis Type II
Tags: 2012, botulinum toxin type A, cerebral-palsy, Children, Disease, equinus deformity, Gautschi M, Grunt S, Hunter syndrome, hunter-syndrome, II, Journal of Child Neurology, Management, MPSII, mucopolysaccharidosis type, Nava E, Neurosciences & Neurology, Nuoffer J M, Pediatrics, pharmacologic intervention, physical intervention, Physical Therapy, Recommendations, serial casting, skeletal-muscle, tone and motor problems, Weber P
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
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome
Sleep disordered breathing in childhood-onset acid maltase deficiency
Tags: 2009, Adolescent, Blood Gas Analysis, Brain and Development, breathing difficulties, Child, Female, glycogen storage disease type II, Glycogen Storage Disease Type II/pp [Physiopathology], Humans, Kagitani-Shimono K, Kato-Nishimura K, Male, Mohri I, Muscle Strength, Muscle Weakness, Nabatame S, non-invasive positive pressure ventilation, Okinaga T, Ozono K, physical intervention, Polysomnography, Positive-Pressure Respiration, Quality Of Life, Respiration, Respiration Disorders/pp [Physiopathology], Respiration Disorders/th [Therapy], Respiratory Function Tests, Retrospective Studies, Sakai N, Sleep apnea, Sleep Apnea Syndromes/pp [Physiopathology], Sleep Apnea Syndromes/th [Therapy], Sleep/ph [Physiology], Tachibana N, Taniike M
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
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]
Olfactory stimulation using black pepper oil facilitates oral feeding in pediatric patients receiving long-term enteral nutrition
Tags: 2008, black pepper oil, costello syndrome, Ebihara S, Ebihara T, Enteral Nutrition, feeding difficulties, Haginoya K, increased oral intake, Kakisaka Y, Kobayashi K, lissencephaly type I, Munakata M, Niisato-Nezu J, Onuma A, physical intervention, Tanaka S, Tohoku Journal of Experimental Medicine, Tsuchiya S T
Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)
Tags: 2015, Actigraphy, autistic spectrum disorders, Bigger B, Canal M, characteristics, circadian rhythms, CONTROLLED-TRIAL, disturbance, Hare D J, Intellectual Disability, Jones S, Journal of Neurodevelopmental Disorders, Light, Mahon L V, melatonin, MPSIIIA, MPSIIIB, Mucopolysaccharidosis type III, Multiple disabilities, Mumford R A, Neurosciences & Neurology, Rare Disease, Sanfilippo, Sleep, sleep disturbance/disorders, sleep problems, smith-magenis-syndrome, Therapy, Trajectory
Behaviour in Cornelia de Lange syndrome: a systematic review
The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome
Tags: 2002, Adolescents, behavioral problems, behavioural phenotype, breathing difficulties, Cass H, Charman T, Children, cpg-binding protein-2, Diagnosis, Epidemiology, Hastings R P, Intellectual Disability, Journal Of Child Psychology And Psychiatry, mecp2, mecp2 mutations, Mental Retardation, mental-retardation, Mount R H, population prevalence, Psychiatry, Psychology, psychopathology, Questionnaire, Reilly S, Rett syndrome, RSBQ, scale development, sleep disturbance, tone and motor problems, tool development, x-chromosome inactivation
The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome
Tags: 2005, Adolescent Child, Arron K, behavioral problems, characteristics, Child, De Lange syndrome, De Lange Syndrome/ep [Epidemiology], Environment, Female, Hall S, Humans, Journal Of Intellectual Disability Research, Male, Moss J, Oliver C, Petty J, Preschool, Self-Injurious behavior, Self-Injurious Behavior/di [Diagnosis], Self-Injurious Behavior/ep [Epidemiology], Self-Injurious Behavior/px [Psychology], Severity Of Illness Index, Sloneem J, Trajectory
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
A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease
Tags: 2017, Adolescent, Adult, Article, auditory hallucination, CAG repeat, characteristics, Child, Clinical Article, Controlled Study, Epping E, Espe-Pfeifer P, Female, Health Survey, Hudgell D, Human, Huntington chorea, juvenile, Juvenile Huntington disease, leg pain, Male, Martin E, Mathews K, Moser A D, Nance M, Neurodegenerative Disease Management, Nopoulos P, Pain, Priority Journal, pruritus, psychosis, Quarrell O, skin irritation, sleep disorder, sleep disturbance/disorders, tic, Trajectory, visual hallucination, Zhorne L
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
Interventions for oropharyngeal dysphagia in children with neurological impairment
Tags: 2012, Cerebral Palsy, Dodrill P, Down Syndrome, feeding difficulties, lip strengthening intervention, Morgan A T, myotonic dystrophy, neurological impairment, oral sensorimotor intervention, oropharyngeal dysphagia, physical intervention, Rett syndrome, sensorimotor intervention, Stroke, The Cochrane Database of Systematic Reviews, traumatic brain injury, Ward E C
The use of pulse oximetry as a screening assessment for paediatric neurogenic dysphagia
Tags: 2008, acute stroke, characteristics, Child, Children, deglutition disorder, desaturation, Developmental Neurorehabilitation, Dysphagia, feeding difficulties, feeding problems, Francis H, Intellectual Disability, Morgan A T, neurological impairment, Neurosciences & Neurology, Omahoney R, oxygen-saturation, Patients, Pediatrics, pulse oximetry, Rehabilitation, reliably detect aspiration, respiratory patterns, Rett syndrome, Severe Cerebral-palsy, swallow, Trajectory
Feed-induced Dystonias in Children with Severe Central Nervous System Disorders
Tags: 1134-47-0 (baclofen), 2017, acquired brain injury, Adolescent, Article, Baclofen/dt [drug Therapy], baclofen/tl [Intrathecal Drug Administration], Campbell D I, Case Study, central nervous system disease, Cerebral Palsy, Child, Clinical Article, Constipation, Dystonia, dystonia/dt [Drug Therapy], feed induced dystonia, feed induced dystonia/dt [Drug Therapy], feeding difficulties, Female, Gastroesophageal Reflux, Gastroscopy, GERD, Human, Hydrocephalus, Hyperglycinemia, Infant, infantile spasm, intestinal dysmotility, intestine motility, Intestine Obstruction, Journal Of Pediatric Gastroenterology And Nutrition, Male, microcephaly, Mordekar S R, motor dysfunction, MPSIII, onset age, Parenteral Nutrition, Percutaneous Endoscopic Gastrostomy, peristalsis, pharmacologic intervention, Practice Guideline, Preschool Child, Priority Journal, reflux esophagitis, Retrospective Study, Rett syndrome, Sanfilippo syndrome, School Child, tone and motor problems, total parenteral nutrition, Velayudhan M, West syndrome
Sleep-disordered breathing in children with achondroplasia
Tags: 1998, achondroplasia, apnea, breathing difficulties, Carroll J L, central apnea, cervicomedullary compression, characteristics, Death, decompression, Francomano C A, Hurko O, Infants, Journal of Pediatrics, Loughlin G M, Marcus C L, Mogayzel P J, obstruction, obstructive sleep apnea, Pediatrics, respiratory complications, Trajectory, unexpected
Prophylactic effect of L 5 hydroxytryptophan on self mutilation in the Lesch Nyhan syndrome
Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome
Dysphagia in Rett Syndrome: A Descriptive Study
Tags: 2017, Adolescent, Annals of Otology, Rhinology and Laryngology, apraxia, Bronchitis, Caregiver, characteristics, Child, Cocca S, Complication, De Felice C, Deterioration, Diagnosis, drug fatality, Dysphagia, Feeding, feeding difficulties, Female, hand movement, Human, Human Tissue, Livi W, Major Clinical Study, Mezzedimi C, neuropsychiatry, Normal Human, Otorhinolaryngology, Prevention, progressive feeding deterioration, Psychosexual Development, Rett syndrome, Speech, tongue, Trajectory
Sleep disordered breathing in spinal muscular atrophy
Tags: 2004, breathing difficulties, Child, Cyclic AMP, Disease Progression, disordered breathing, Dohna-Schwake C, Female, Humans, Male, Mellies U, Muscle, Neuromuscular Disorders, non-invasive positive pressure ventilation, physical intervention, Response Element-Binding Protein, Skeletal/pa [Pathology] Muscle, SMA1, Stehling F V T
Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
Tags: 2014, Ash M, Bertini E, Bianco F, Bushby K, Colia G, D'Amico A, De Sanctis R, de Viesser M, de Vries R, Eagle M, Fanelli L, Febrer A, Goemans N, HMFS, Jeukens M, Korinthenberg R, Main M, Mata J F, Mayhew A, Mazzone E, Mercuri E, MFM, Muntoni F, Neuromuscular Diseases, Neuromuscular Disorders, Neurosciences & Neurology, Outcome measures, Palermo C, Pane M, responsiveness, scale development, Schaefer K, Scoto M, Servais L, SMA1, Spinal Muscular Atrophy, spinal muscular-atrophy, tone and motor problems, tool development, Totoescu A, trial, VALIDATION, van den Hauwe M, Vigo M, Voit T, walk test
Dilatation of esophageal strictures in epidermolysis bullosa patients: a single center experience
Tags: 2016, Children, complications, dilatation, Dysphagia, Endoscopic, epidermolysis bullosa, Esophageal stenosis, esophageal stricture dilatation, Esophagus, feeding difficulties, Gastroenterology & Hepatology, gastrointestinal manifestations, Karaman M, Management, Markos P, Murat-Susic S, Omerza L, Pulanic R, Rustemovic N, surgical intervention
Assessment of sleep in children with mucopolysaccharidosis type III
Tags: 2014, Actigraphy, Adolescent, Bigger B, Canal M, Case-Control Studies, characteristics, Child, Cross E, Female, Grant S, Hare D J, Humans, JL5DK93RCL (Melatonin), Jones S, Langford-Smith K, Lomax M, Mahon L V, Male, Melatonin/me [Metabolism], MPSIIIA, MPSIIIB, Mucopolysaccharidosis III/pp [Physiopathology], PLoS One, Preschool, sleep disturbance/disorders, Sleep/ph [Physiology], Time Factors, Trajectory, Wraith J E
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Tags: 2017, abdominal bloating, Adult, Article, autonomic dysfunction, bloating, breath holding, breath-holding, breathing difficulties, breathing disorder, Breathing disorders, breathing pattern, Caregiver, characteristics, Child, Data Base, Developmental Disability, Downs J, Epstein A, Female, Genotype, Heyworth J, Human, hyperventilation, International database, Journal of Neurodevelopmental Disorders, Leonard H, MacKay J, Male, mecp2, Mutation, Noninvasive Ventilation, onset age, oxygen, Priority Journal, Questionnaire, Rare disorder, rebreathing, Rett syndrome, School Child, Trajectory, Wong K
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome)
Tags: 11q terminal deletion disorder, 2008, Behavior, Biotechnology & Applied Microbiology, Braam W J, characteristics, Children, Curfs L M G, Didden R, Disabilities, disturbance, Ethics, Genetic Counseling, Genetics & Heredity, Grossfeld P D, Jacobsen syndrome, Korzilius H, Maas A, Medical, Questionnaire, Research & Experimental Medicine, Sleep, sleep disturbance/disorders, sleep problems, Smits M G, Trajectory
Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down's syndrome, and Jacobsen syndrome: A case control study
Psychometric properties of a sleep questionnaire for use in individuals with intellectual disabilities
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