Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
Tags: 2017, Actigraphy, Autism, D'Gama A M, definitions, Dy M E, girls, hand stereotypies, Kapur K, Kaufmann W E, Neurosciences & Neurology, O'Leary H, operational, Pediatric Neurology, Pediatrics, Regression, Rett syndrome, Sahin M, scale development, Sharma N, tone and motor problems, tool development, Urion D K, video analysis, Waugh J L
Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS)
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
Development of a video-based evaluation tool in Rett syndrome
Tags: 2007, Adolescent, Adult, Burford B, Child, Diagnosis Differential, Downs J, Ellaway C, Feasibility Studies, feeding difficulties, Female, filming and coding protocol, Fyfe S, Humans, Journal of Autism and Developmental Disorders, Kaufmann W E, Laurvick C L, Leonard H, Lister J, Male, McIlroy O, Movement Disorders/diagnosis/etiology, Msall M, Phenotype, Philippe C, Reilly S, Rett syndrome, Rett Syndrome/complications/diagnosis, scale development, tone and motor problems, tool development, Videotape Recording
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
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
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
Developmental and behavioural characteristics of cri du chat syndrome
Tags: 1996, Archives of Disease in Childhood, Behavior, bowel incontinence, characteristics, clumsiness, Cornish K M, Cri-du-chat, feeding difficulties, obsessive attachment to objects, Pigram J, repetitive movements, self-injury, sound hypersensitivity, tone and motor problems, Trajectory, urinary incontinence
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
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome
Tags: 2016, adenotonsillectomy, advice to interrupt tongue protrusion, antireflux medication, bilateral submandibular gland excision, Blommaert D, Erasmus C E, feeding advice, feeding difficulties, Hoogen F J A van den, Journal of Child Neurology, MEGDEL syndrome, parotid duct ligation, pharmacological intervention, surgical intervention, van Hulst K, Wortmann S B
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
Direct Observation of the Behaviour of Females with Rett Syndrome
Disordered breathing during sleep in patients with mucopolysaccharidoses
Tags: 2001, breathing difficulties, characteristics, Dinwiddie R, frequent awakenings, Galactosialidosis, International Journal of Pediatric Otorhinolaryngology, Lane R, Leighton SEJ, MPSI, MPSII, MPSIII, MPSIIIA, MPSIIIB, MPSVI, MPSVII, obstructive sleep apnea, OSA, Papsin B, poor sleep quality, sleep disturbance, Trajectory, Vellodi A
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
Disturbances in cardiorespiratory function during day and night in Rett syndrome
Disturbances of Rapid-Eye-Movement Sleep in 3 Brothers with Pelizaeus-Merzbacher Disease
Dysphagia in Friedreich Ataxia
Tags: 2017, adults, aspiration, characteristics, Corben L A, Delatycki M B, Dysphagia, feeding difficulties, Friedreich's ataxia, Gait disorders/ataxia, Gupta I, interrater reliability, Keage M J, Management, molecular-genetics, Otorhinolaryngology, pathogenesis, Pathology, penetration, penetration-aspiration scale, Quality Of Life, Speech, Swallowing, Trajectory, Trinucleotide repeat diseases, Videofluoroscopy, Vogel A P
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
Dyspnea in Children with Life-Threatening and Life-Limiting Complex Chronic Conditions
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
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
Eating difficulties in girls with Rett syndrome compared with other developmental disabilities
Effect of baclofen on emesis and 24-hour esophageal pH in neurologically impaired children with gastroesophageal reflux disease
Effect of hand splints on stereotypic hand behavior of girls with Rett syndrome: a replication study
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
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
Effect of selective dorsal rhizotomy on daily care and comfort in non-walking children and adolescents with severe spasticity
Tags: 2017, Adolescent, Attention, Becher J G, Bolster E A M, Buizer A I, Cerebral Palsy, Child, Clinical Article, Comfort, Congenital Malformation, Controlled Study, dorsal rhizotomy, Dystonia, European Journal of Paediatric Neurology, Follow Up, Human, leg muscle, lipidoses, Medical History, Pain, risk factor, Satisfaction, School Child, scoliosis, selective dorsal rhizotomy, Spasticity, Stadhouder A, Strijers R L, surgical intervention, tone and motor problems, van de Pol L A, van Ouwerkerk W J, van Schie P E M, Vermeulen R J
Effective treatment of spasticity using dronabinol in pediatric palliative care
Effects of acupuncture on skin temperature in children with neurological disorders and cold feet: An exploratory study
Effects of rikkunshito on the clinical symptoms and esophageal acid exposure in children with symptomatic gastroesophageal reflux
Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
Tags: 2006, American Journal on Mental Retardation, Arron K, assessments, behavioral problems, brachmann-delange syndrome, Children, Communication, De Lange syndrome, Education & Educational Research, evaluate aberrant behavior, Forman D, functional-analysis, Hall S, McClintock K, mutilative behavior, Oliver C, Phenotype, Rehabilitation, self injurious behavior, self-injury, skills, Sloneem J, trajectory characteristics
Efficacy and safety of endoscopic dilation of esophageal strictures in epidermolysis bullosa
Tags: 2004, Adolescent, Adult, Anderson S H C, Article, Balloon dilatation, barium, Body Weight, Chappiti U, contrast enhancement, Doig L, Dysphagia, Eady R A J, endoscopic balloon dilatation, endoscopic therapy, epidermolysis bullosa, epidermolysis bullosa/th [Therapy], esophagus dilatation, esophagus stricture/th [Therapy], feeding difficulties, Female, Follow Up, Gastrointestinal Endoscopy, Human, Major Clinical Study, Male, Meenan J, Morbidity, Nutritional Status, Prinja H, Priority Journal, Propofol, School Child, scoring system, surgical intervention, Thompson R P H, Treatment Outcome, Williams K N
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
Endoscopic balloon dilatation of esophageal strictures in children
Tags: 2011, Alshammari J, atresia, Balloon dilatation, Children, conservative treatment, Couloigner V, dilation, Dysphagia, endoscopic balloon dilatation, epidermolysis bullosa, Esophageal strictures, Experience, feeding difficulties, ingestion, International Journal of Pediatric Otorhinolaryngology, Management, Otorhinolaryngology, Pediatrics, Pierrot S, Quesnel S, repair, surgical intervention
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
Tags: 2001, Adolescent, Backes M, BJU International, characteristics, Child, Enuresis/etiology/physiopathology, Female, Humans, Laufersweiler-Plass C, Male, Muscular Atrophy Spinal/complications/physiopathology, Nerve Degeneration/complications/physiopathology, Rudnik-Schoneborn S, SMA1, Trajectory, urinary incontinence, Urinary Incontinence/etiology/physiopathology, von Gontard A, Zerres K
Esophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilatation
Tags: 2006, 24GP945V5T (Barium), Adolescent, Azizkhan R G, barium, Catheterization, Child, Cohen A P, Dystrophica/co [Complications], epidermolysis bullosa, Esophageal Stenosis/et [Etiology], Esophageal Stenosis/th [Therapy], Farrell M K, feeding difficulties, Female, fluoroscopically guided balloon dilatation, Hammelman B D, Humans, Johnson N D, Journal Of Pediatric Surgery, Lucky A W, Male, Preschool, Racadio J M, Retrospective Studies, Stehr W, surgical intervention, Treatment Outcome, Wittkugel E
Evolution of Stereotypies in Adolescents and Women with Rett Syndrome
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
Fatigue and depression in children with demyelinating disorders
Tags: 2013, acquired demyelinating syndromes, acute disseminated encephalomyelitis, Adolescent, alertness, Article, Benedict R H B, Canada, characteristics, Child, Child Behavior, Childhood Disease, Clinical Article, Cohort Analysis, Comorbidity, Controlled Study, Cross-sectional Study, demyelinating disease, demyelinating disorders, Depression, disease duration, Epidemiology, Fatigue, Female, Health Survey, Human, Journal of Child Neurology, Male, Mood, Multiple Sclerosis, Parrish J B, Priority Journal, psychological aspect, School Child, Self Report, Sleep, Smerbeck A, Therapy, Trajectory, Weinstock-Guttman B, Yeh E A