Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Anti-parkinson drugs in the Batten-Spielmeyer-Vogt syndrome; a pilot trial
Tags: 1982, Adolescent, Adult, amantadine, Amantadine/therapeutic use, Antiparkinson Agents/therapeutic use, Benserazide/therapeutic use, Clinical Neurology and Neurosurgery, Drug Combinations/therapeutic use, Humans, Levodopa/therapeutic use, Lipidoses/drug therapy, madopar, NCL3, orfenadrine, pharmacologic intervention, Psychoses Substance-Induced/etiology, Syndrome, tone and motor problems, van der Zee H J, van Nieuwenhuizen O, Zweije-Hofman I L
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
Tags: 2012, ataxia, ataxia telangectasia, betamethasone, Betti G, Brusco A, Buoni S, Chessa L, Finocchi A, Fois A, Hayek J, Kelly C, Leuzzi V, Martino S, Micheli R, Misiani F, Movement Disorders, pharmacologic intervention, Pietrogrande M C, Plebani A, Rossi L N, Salvucci S, Soresina A, tone and motor problems, Zannolli R
Sleep disorders in Cornelia de Lange syndrome
Tags: 2016, Adolescent, Adult, Ajmone P, American Journal of Medical Genetics Part C - Seminars in Medical Genetics, Article, body mass, Canevini M P, characteristics, Child, Clinical Article, Comorbidity, Controlled Study, De Lange syndrome, Epilepsy, Female, Fossati C, Furia F, Gastroesophageal Reflux, gene, gene mutation, Gervasini C, HDAC8 gene, histone deacetylase 8, Human, Intellectual Impairment, Kullman G, Male, Masciadri M, NIPBL gene, Priority Journal, problem behavior, RAD21 gene, Russo S, Selicorni A, sleep disorder, sleep disturbance/disorders, SMC1A gene, SMC3 gene, Taiana M, Trajectory, Turner K, Vignoli A, Zambrelli E
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings
Tags: 2017, achondroplasia, Achondroplasia/co [Complications], Achondroplasia/ge [Genetics], Age Factors, Antoniazzi F, Cantalupo G, characteristics, Child, Child Preschool, Cohort Studies, EC 2-7-10-1 (FGFR3 protein human), EC 2-7-10-1 (Receptor Fibroblast Growth Factor Type 3), feeding difficulties, Female, Gasperi E, Humans, Incidence, Infant, Lo Tartaro P, Male, Minerva Pediatrica, Piacentini G, Polysomnography/mt [Methods], Receptor Fibroblast Growth Factor Type 3/ge [Genetics], respiratory sleep disorder, Sleep Apnea Syndromes/di [Diagnosis], Sleep Apnea Syndromes/ep [Epidemiology], Sleep Apnea Syndromes/et [Etiology], Surveys And Questionnaires, Trajectory, Zaffanello M
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
Variations of Stereotypies in Individuals With Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan
Tags: 2017, Autism, Autism Research, Behavioral Sciences, bruxism, CDKL5, characteristics, chinese patients, Disorders, Epilepsy, Ganglia, girls, hair pulling, Hung P L, Jan T Y, Lee W T, lip protrusion, manifestations, mecp2, mecp2 mutations, motor stereotypies, Movement Disorders, Psychology, retropulsion, Rett syndrome, stereotypies, stereotypy, tone and motor problems, Trajectory, Wong L C
Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
Tags: 2006, Bennett H L, Boothby C M, breathing difficulties, characteristics, Disorder, dysfunction, explanation, hyperventilation, increased breathing frequency, increased mean airflow increased hear rate, irregular breathing, Kenny A S, Lieske S P, long qt syndrome, mecp2, mutations, Patterns, Pediatric Research, Pediatrics, Ramirez J M, Rett syndrome, Silvestri J M, sudden-death, Trajectory, Weese-Mayer D E
Autonomic Dysregulation in Young Girls With Rett Syndrome During Nighttime in-Home Recordings
Tags: 2008, autonomic dysregulation, Bennett H L, Boothby C M, breathing difficulties, cardiorespiratory dysregulation, characteristics, Disorder, disturbances, dysfunction, hyperventilation, increased breathing frequency, irregular breathing, Kenny A S, Lieske S P, mecp2 mutations, Mice, nervous-system, Patterns, Pediatric Pulmonology, Pediatrics, Ramirez J M, Respiratory System, Rett syndrome, Trajectory, Weese-Mayer D E
Breathing abnormalities in sleep in achondroplasia
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
Tags: 1995, achondroplasia, Achondroplasia/co [Complications], adenotonsillectomy, Adolescent, Adult Child, American Journal Of Medical Genetics, breathing difficulties, Child, CPAP, Everett F, Evoked Potentials, Fagan E R, Female, Humans, Infant, losing weight, Male, Middle Aged, physical interventions, Preschool, Respiration, respiratory disturbance index, Sillence D O, Sleep Apnea Syndromes/et [Etiology], Sleep Apnea Syndromes/th [Therapy], Sullivan C E, surgical interventions, Tonsillectomy, Waters K A, Weight Loss
An analogue assessment of repetitive hand behaviours in girls and young women with Rett syndrome
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
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica
Tags: 2015, Adolescent, Boschin M, Child, Child Preschool, Combined Modality Therapy, Dilatation/methods, Endoscopy, epidermolysis bullosa, Epidermolysis Bullosa Dystrophica/complications, Esophageal Stenosis/etiology/therapy, feeding difficulties, Female, Follow-up Studies, Frosch M, Gastrostomy, Gottschalk A, growth improvement, Hahnenkamp K, Humans, Infant, Laukoetter M, Male, Mennigen R, Nutrition, orthograde balloon dilation, Recurrence, retrograde dilation, Senninger N, surgical intervention, Treatment Outcome, Tubergen D, Vowinkel T
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
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
Evolution of Stereotypies in Adolescents and Women with Rett Syndrome
Functional and gait assessment in children and adolescents affected by Friedreich's ataxia: A one-year longitudinal study
Tags: 2016, Adolescent, Article, assessment of humans, Bella G D, Bertini E, Castelli E, characteristics, Child, Clinical Article, Controlled Study, Female, Friedreich's ataxia, functional assessment, Gait, Gait Analysis and the Scale for the Assessment and Rating of Ataxia, Gazzellini S, Human, Lispi M L, longitudinal study, Male, Petrarca M, Pisano A, PLoS One, Preschool Child, Reliability, step length, stride length, tone and motor problems, Trajectory, Vasco G, Walking, walking velocity, Zazza M
Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
Tags: 2012, acid maltase deficiency, Children, de Vries J M, Disease, Duivenvoorden H J, Endocrinology & Metabolism, Genetics & Heredity, genotype-phenotype correlation, glycogen storage disease type II, Hagemans M L C, Journal Of Inherited Metabolic Disease, Leshner R T, Medicine, motor function, muscle function, muscular-dystrophy, natural course, Research & Experimental, responsiveness, Scale, scale development, tone and motor problems, tool development, VALIDATION, van Capelle C I, van der Beek N A M E, van der Ploeg A T, van Doorn P A
What Problematic Behaviors are Observed among Mentally Handicapped Children Receiving Pediatric Physical Therapy?
Tags: 2010, Aberrant Behavior Checklist, behavioral problems, characteristics, features, fragile-x-syndrome, Gotou M, Inoue Y, Irritability, Japanese manuals of, Journal of Physical Therapy Science, Koeda H, lethargy, Mowat-Wilson syndrome, Nanba Y, Naruse S, Pediatric Physical Therapy, Pena Shokeir syndrome, prader-willi, Problematic behaviors, Rehabilitation, Tokuhisa K, Trajectory, Tuberous Sclerosis, Uesugi M, West syndrome
Comparison of Problematic Behavior According to the Ryouiku Techou Standard
Tags: 2013, behavioral problems, characteristics, Gotou M, Inoue Y, Journal of Physical Therapy Science, lethargy, Mowat-Wilson syndrome, Nanba Y, Otani Y, Pena Shokeir syndrome, Problematic behavior, Rehabilitation, Ryouiku Techou, stereotyped behaviors, Takemasa S, The Japanese version of the Aberrant Behavior Checklist, Trajectory, Tuberous Sclerosis, Uesugi M, West syndrome
Effect of hand splints on stereotypic hand behavior of girls with Rett syndrome: a replication study
Considerations in deep brain stimulation (DBS) for pediatric secondary dystonia
Tags: 2017, cerebral-palsy, Childs Nervous System, deep brain stimulation, Dystonia, globus-pallidus internus, Granader Y, hemidystonia, IND, Keating R F, Lavenstein B, Neurosciences & Neurology, Oluigbo C O, Pediatric neurosurgery, Pediatrics, Reddy S K, secondary dystonia, Surgery, surgical intervention, surgical-treatment, Tochen L, tone and motor problems, Tsering D
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
The development and psychometric assessment of a questionnaire to assess sleep and daily troubles in parents of children and young adults with severe psychomotor impairment
Tags: 2014, Behavior, Blankenburg M, Caregivers, cerebral-palsy, characteristics, Children with severe psychomotor, Disability, disturbances, Hirschfeld G, HOST, impairment, instrument, Koh M, maternal sleep, Michel E, Neurosciences & Neurology, Otto M, Parents' impairment, Parents' questionnaire, Q3 conditions, quality index, scale development, Screening, sleep disturbance/disorders, Sleep disturbances, Sleep Medicine, test-retest reliability, Tietze A L, tool development, Trajectory, unclear Q3 conditions, VALIDATION, Validity, Zernikow B
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
Sleep-disordered breathing and its management in children with achondroplasia
Tags: 2017, achondroplasia, adenotonsillectomy, Amaddeo A, American Journal of Medical Genetics Part A, apnea hypopnea index, apnea monitoring, Baujat G, BiPAP, bone dysplasia, breathing difficulties, cervical decompression, Child, Clinical Article, Cormier-Daire V, Couloigner V, CPAP, De Sanctis L, ENT surgery, Fauroux B, Human, James S, Khirani S, Michot C, Neurosurgery, obstructive sleep apnea, physical interventions, Polysomnography, Preschool Child, Prevalence, Retrospective Study, School Child, Sleep disordered breathing, Surgery, surgical interventions, Tenconi R, upper respiratory tract, Zerah M
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Tags: 2008, Barbot C, Borges L, Cabral A, Cabral P, Calado E, Carrilho I, characteristics, CHOREA, Dias K, Dystonia, females, Fonseca M, Gomes R, Levy A, Maciel P, Monteiro J P, Moreira A, Movement Disorders, Neurosciences & Neurology, Oliveira G, Parkinson, Ramos E, Rett syndrome, rigidity, Santos M, Sequeiros J, stereotypies, Temudo T, tone and motor problems, Trajectory, tremor, Vieira J P
Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
Tags: 2007, Barbosa C, Barbot C, behaviors, Borges L, Cabral A, Cabral P, Calado E, Carrilho I, characteristics, Dias A, Dias K, Eusebio F, Fonseca M, Gomes R, hair pulling, hand movements, Levy A, Maciel P, Mira G, Monteiro J, Moreira A, Neurology, Neurosciences & Neurology, normal human infants, Oliveira G, Oliveira P, Regression, Rett syndrome, Santos M, Sequeiros J, stage, stereotypy, Temudo T, tone and motor problems, Trajectory, Vieira J
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome
Tags: 2011, Adolescent, adults, behavioral problems, behaviour, Chappaz I O, characteristics, Child, Cri-du-chat, cri-du-chat syndrome, development, Education & Educational Research, Emerich D R, Epidemiology, Gatto K R, Genetics & Heredity, INDIVIDUALS, Journal Of Intellectual Disability Research, Kim C A, maladaptive behaviors, Neurology, Neurosciences &, Orsati F T, Prevalence, Psychiatry, Rehabilitation, Rimerio R C, Teixeira Mctv, Trajectory
Skin temperature in the extremities of healthy and neurologically impaired children
Tags: 2005, Brain Diseases/diagnosis/physiopathology, characteristics, Child, Child Preschool, chromosome 22q11.2 deletion, European Journal of Paediatric Neurology, Female, Foot, Hand, Humans, Infrared Rays, Lundeberg T, Male, Nordahl G, Skin Temperature, SMA1, Spinal Cord Diseases/diagnosis/physiopathology, Stener-Victorin E, Svedberg L E, temperature regulation, Trajectory, Walking
Effects of acupuncture on skin temperature in children with neurological disorders and cold feet: An exploratory study
An evaluation of rating scales utilized for deep brain stimulation for dystonia
Tags: 2010, cervical dystonia, deep brain stimulation, Dystonia, electrical-stimulation, Foote K D, globus pallidus internus, globus-pallidus internus, Jacobson C E, Journal Of Neurology, Malaty I A, Mishra M, movement-disorders, Neurosciences & Neurology, Okun M S, Outcome, pallidotomy, primary generalized dystonia, Q3 conditions, Rating, Rodriguez R L, scale development, scales, secondary dystonia, segmental dystonia, Sun A Q, surgical intervention, Susatia F, term-follow-up, tone and motor problems, tool development, torsion dystonia, ul Haq I, unspecified Q3 conditions, Wu S S, Zeilman P R
Comparison of treatment modalities in syndromic children with Obstructive Sleep Apnea-A randomized cohort study
Tags: 2014, adenotonsillectomy, apnea hypopnea index, Article, Arumugam S V, breathing difficulties, Child, Clinical Effectiveness, Continuous Positive Airway Pressure, Controlled Study, CPAP device, Down Syndrome, Epworth sleepiness scale, ess-c, Female, Follow Up, Human, International Journal of Pediatric Otorhinolaryngology, Kameswaran M, Major Clinical Study, Male, MPSI, MPSII, MPSIII, MPSIIIA, MPSIIIB, MPSVI, MPSVII, Mucopolysaccharidoses, Mucopolysaccharidosis, Murali S, osa-18, outcome assessment, Paramasivan V K, Pediatric obstructive sleep apnea, physical interventions, positive end expiratory pressure, Priority Journal, Quality Of Life, radiofrequency ablation device, Randomized Controlled Trial, sleep disordered breathing/su [Surgery], sleep disordered breathing/th [Therapy], Sudarsan S S, surgical interventions, Treatment Outcome
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Tags: 2005, Adolescent, Adult, Age of Onset, Arm/pp [Physiopathology], Ashizawa T, Brain Stem/pp [Physiopathology], Cooperative Ataxia Group, Disease Progression, Female, Fischbeck K, Friedreich Ataxia/di [Diagnosis], Friedreich Ataxia/pp [Physiopathology], Friedreich's ataxia, Friedrich's Ataxia Scale, Gait Disorders, Gomez C, Hallett M, Lynch D, May W, Neurologic/di [Diagnosis], Neurologic/et [Etiology], Neurology, scale development, Subramony S H, Taylor P, tone and motor problems, tool development, Wilson R
Non-endoscopic percutaneous gastrostomy placement in children with recessive dystrophic epidermolysis bullosa
Tags: "Push", 2008, Anesthesia, Azizkhan R G, Chile, dilation, epidermolysis bullosa, Esophageal strictures, Farrell M K, feeding difficulties, Gastrostomy, gastrostomy tube placement, iind international-symposium, Johnson N D, Lucky A W, Management, non-endoscopic percutaneous gastrostomy, Nutrition, Pediatric Surgery International, Pediatrics, Racadio J M, santiago, Stehr W, Surgery, surgical intervention
Characterization of sleep disturbance in Cornelia de Lange Syndrome
Tags: 2011, breathing difficulties, characteristics, Cornelia de Lange syndrome, De Lange syndrome, International Journal of Pediatric Otorhinolaryngology, Ishman S L, Kimball A, Kline A D, Levy H P, Mettel T L, Sleep disordered breathing, sleep disturbance, Sleepiness, snoring, Stavinoha Rose C, Trajectory
Comparing PECS and VOCA to promote communication opportunities and to reduce stereotyped behaviors by three girls with Rett syndrome
Tags: 2 boys, 2014, Albano V, Augmentative and alternative communication, Autism, contact, Damiani R, De Pace C, DEVELOPMENTAL, Developmental-disabilities, Di Leone A, Disabilities, Education & Educational Research, environmental stimuli, Indices of happiness, keyboard emulator, microswitch-based programs, motor disabilities, Perilli V, physical intervention, Picture exchange communication systems, profound multiple disabilities, Psychiatry, Psychology, Quality Of Life, quality-of-life, Rehabilitation, Research In Autism Spectrum Disorders, Rett syndrome, Social, spectrum disorders, Stasolla F, stereotypies, tone and motor problems, Vocal output communication aid
Technological aids to support choice strategies by three girls with Rett syndrome
Promoting adaptive behaviors by two girls with Rett syndrome through a microswitch-based program
Tags: 2013, adaptive behavior, Adolescent, Article, Assistive technology, Caffo A O, Case Report, Child Behavior, Female, hand washing, Happiness, Human, Indices of happiness, locomotion, Locomotor behavior, Microswitches, optic sensors, physical intervention, Priority Journal, Research In Autism Spectrum Disorders, Rett syndrome, School Child, Stasolla F, stereotyped movements, stereotypy, tone and motor problems, Wobble microswitch