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
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
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
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
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
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
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
Technological aids to support choice strategies by three girls with Rett syndrome
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
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
Autism traits in children and adolescents with Cornelia de Lange syndrome
Tags: 2014, Aberrant Behavior Checklist, adaptive behavior, Adolescent, Adult, Age, American Journal of Medical Genetics Part A, Article, Autism, behavior disorder, Behavioral phenotype, behavioral problems, characteristics, Checklist, Child, Childhood Autism Rating Scale, Clark B, Clinical Article, Communication, communication disorder, compulsion, Cornelia de Lange syndrome, daily life activity, De Lange syndrome, Diagnosis, Disease Severity, Emotion, Female, Grados M A, Human, hyperactivity, Intellectual Impairment, Interpersonal Communication, Irritability, Kline A D, Landy-Schmitt C, Language, lethargy, limb, maladjustment, Male, Phenotype, Priority Journal, psychological rating scale, Rating Scale, Repetitive behaviors, rigidity, Skill, social cognition, Socialization, Specht M, Srivastava S, stereotypy, Trajectory, Verbal Communication, Vineland Adaptive Behaviors Scales
Fluoroscopically Guided Dilation of Esophageal Strictures in Patients With Dystrophic Epidermolysis Bullosa: Long-Term Results
Tags: 2012, Adam A, American Journal Of Roentgenology, Balloon dilatation, benign esophageal stricture, Children, Dourado R, Dysphagia, dystrophic epidermolysis bullosa, eb, epidermolysis bullosa, Experience, feeding difficulties, fluoroscopically guided balloon dilation, fluoroscopically guided dilation of esophageal strictures, gastronomy tube placement, Gkoutzios P, Krokidis M, Management, Mellerio J, Nutritional Failure, Radiology Nuclear Medicine & Medical Imaging, Sabharwal T, Spiliopoulos S, stenosis, surgical intervention
Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome
Tags: 1993, Adolescent, Adult, American Journal Of Medical Genetics, characteristics, Child, De Lange syndrome, De Lange Syndrome/co [Complications], De Lange Syndrome/complications, Esophagitis/co [Complications], Esophagitis/complications/prevention & control, Esophagitis/pc [Prevention & Control], feeding difficulties, Gastroesophageal Reflux, Gastroesophageal Reflux/co [Complications], Gastroesophageal Reflux/complications, GERD, Humans, Infant, NET Files, Posture, Sandifer complex, Sommer A, Spasm/co [Complications], Spasm/complications, Torticollis/co [Complications], Torticollis/complications, Trajectory
Comparative Effects of Bilateral Hand Splints and an Elbow Orthosis on Stereotypic Hand Movements and Toy Play In 2 Children with Rett Syndrome
Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale
Tags: 2015, Ahmed A, amygdala volume, Autism, Behavior phenotype, Behavior Rating Scale, behavioral problems, characteristics, Delaney K A, Endocrinology & Metabolism, Genetics & Heredity, Haslett P A J, kluver, Management, Medicine, Molecular Genetics and Metabolism, MPSIII, mucopolysaccharidosis type iiia, Nestrasil I, Potegal M, Research & Experimental, Rudser K R, Rumsey R K, Sanfilippo syndrome, Shapiro E G, Trajectory, Wey A, Whitley C B
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
Otorhinolaryngological, Audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C
Tags: 2016, Adolescent, Aksoy S, Akyol U, Article, aspiration scale, auditory response, Balance disorders, body equilibrium, characteristics, Child, Clinical Article, Controlled Study, Demir N, Dysphagia, Endoscopy, feeding difficulties, Female, Flexible endoscopy, hearing, hearing impairment, Hearing problems, Human, International Journal of Pediatric Otorhinolaryngology, Kuscu O, Male, Niemann Pick disease/di [Diagnosis], Niemann-Pick Disease, NPC, Otorhinolaryngology, penetration, postural imbalance, Preschool Child, Priority Journal, Prospective Study, pure tone audiometry, School Child, Senirli R T, stabilography, Swallowing, Swallowing disorders, tone and motor problems, Topcu M, Trajectory, vestibular system, Yigit O