Browse Items (291 total)
- Collection: Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Behavioral aspects of Lesch-Nyhan disease and its variants
Tags: 2005, Adolescent, Adult, Aggression, alertness, anxiety, behavioral problems, characteristics, Child, Depression, Developmental Medicine and Child Neurology, distractibility, Female, Harris J C, Humans, Jinnah H A, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/px [Psychology], Male, Meyer S M, Nyhan W L, Puig J G, Schretlen D J, Self-Injurious behavior, self-injury, Severity Of Illness Index, Trajectory, Ward J, Yun J
Behavioral contingencies and self-mutilation in Lesch-Nyhan disease
Tags: 1978, Adolescent, Alpert M, Anderson L, aversive stimulation electric shock, Behavior Therapy/mt [Methods], behavioral problems, Child, Dancis J, Humans, Journal Of Consulting And Clinical Psychology, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/px [Psychology], Lesch-Nyhan Syndrome/th [Therapy], Male Punishment, positive reinforcement, Preschool, psychological intervention, Self Mutilation/th [Therapy], self-injury, self-mutilation, time-out
Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study
Tags: 2007, 22q11.2 Deletion Syndrome, Abnormalities Multiple/genetics/pathology/psychology, American Journal of Medical Genetics Part A, Beemer F A, behavioral problems, Case-Control Studies, characteristics, Child, Child Behavior Disorders/psychology, Chromosome Deletion, Chromosomes Human Pair 22, Craniofacial Abnormalities/psychology, Duijff S N, Female, Heineman-de B J A, Humans, Intelligence, Jansen P W, Klaassen P W, Male, Morcus M E, Psychometrics/methods, Reproducibility of Results, Syndrome, Trajectory, Vorstman J A
Behaviour in Cornelia de Lange syndrome: a systematic review
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
Behavioural phenotype of Cornelia de Lange syndrome
Behavioural phenotype of Cornelia de Lange syndrome: case-control study
Tags: 2008, Adolescent, Adult, Arron K, Autistic Disorder/psychology, behavioral problems, Case-Control Studies, characteristics, Child, Child Preschool, Communication Disorders/psychology, Compulsive Behavior/psychology, De Lange syndrome, De Lange Syndrome/psychology, Female, global behavior disorder, Hall S, Humans, Male, Oliver C, Phenotype, Sloneem J, Surveys And Questionnaires, The British Journal of Psychiatry, Trajectory, Young Adult
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders
Tags: 2013, annotation, Behavior, challenging behavior, characteristics, Children, clinical variability, Cross E M, Endocrinology & Metabolism, Genetics & Heredity, Hare D J, hunters, Journal Of Inherited Metabolic Disease, Medicine, mental-retardation, mild, MPSI, MPSII, MPSIIIA, MPSIIIB, Research & Experimental, sanfilippo b-disease, sleep disturbance, Syndrome, tone and motor problems, Trajectory
Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: Deep brain stimulation in childhood secondary dystonia
Tags: (DBS), 2012, BFMDRS, cerebral-palsy, Childhood dystonia, Children, deep brain stimulation, Disability, European Journal of Paediatric Neurology, Follow-up, Gimeno H, globus-pallidus internus, Glutaric acidemia type I, Goals, Lin J P, Neurosciences & Neurology, Outcomes, Paediatric deep brain stimulation, Patient Selection, pediatric movement-disorders, Pediatrics, primary generalized dystonia, Rehabilitation, Reliability, secondary dystonia, Selway R, surgical intervention, tone and motor problems, Tustin K, Validity
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
Breathing abnormalities in sleep in achondroplasia
Building the repertoire of measures of walking in Rett syndrome
Tags: 2-minute, 2017, 6-minute, adults, Bisgaard A M, cerebral-palsy, Children, Disability And Rehabilitation, disability inventory, Downs J, functional mobility scale, girls, Leonard H, Modified two-minute walk test, Nordmark E, pediatric evaluation, Rehabilitation, Rett syndrome, Rett syndrome specific functional mobility scale, RSGMS, scale development, Stahlhut M, test-retest reliability, tone and motor problems, tool development, two-minute walk test, Walking
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses
Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period
Tags: 2011, Adolescent, Adult, Age Factors, Arginine/genetics, Australia, Bebbington A, characteristics, Disease Progression, Downs J, Female, Foley K R, Girdler S, Humans, Jacoby P, Journal of Child Neurology, Kaufmann W E, Leonard H, Linear Models, Longitudinal Studies, Methyl-CpG-Binding Protein 2/genetics, Motor Skills/physiology, Movement Disorders/etiology/genetics, Mutation/genetics, Retrospective Studies, Rett syndrome, Rett Syndrome/complications/genetics, tone and motor problems, Trajectory, Young Adult
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
Tags: 2001, abnormal respiratory rhythm, Al-Rawas S, angiotensin-ii, Apartopoulos F, Archives of Disease in Childhood, autonomic system, brain stem, breathing difficulties, characteristics, component, Dysautonomia, Engerstrom I W, Engerstrom L, Hansen S, hyperventilation, immaturity, Jamal G A, Julu P O O, Kerr A M, Neurons, nucleus-tractus-solitarii, Pediatrics, protein-2, real-time, reflexes, Rett disorder, Rett syndrome, Trajectory, vagal tone
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
Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia
CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)
Tags: 1995, Alila A, American Journal Of Medical Genetics, body temperature, characteristics, Children, circadian rhythms, cortisol, disturbance, Genetics & Heredity, Hatonen T H, Heikkila E, Heiskala H, Laakso M L, melatonin, mental handicap, Motor Activity, NCL3, neuronal ceroid lipofuscinosis, Radioimmunoassay, retina, Salmi T, Santavuori P, Sleep, sleep disturbance/disorders, Telakivi T, Trajectory
Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
Tags: 2017, Adolescent, Adult, Aged, Aguilera-Albesa S, Behavior, Castro C A, Child, Coelho M, Cognitive Dysfunction/di [Diagnosis], Cognitive Dysfunction/et [Etiology], Correia G L, Costa C, Cross-sectional Studies, Cuadras P D, Darling A, Disabled Persons, dystonia/di [Diagnosis], Dystonia/et [Etiology], Espinos C, Ferreira J, Garcia P J, Garrido C, Gaston I, Gavilan I T, Gonzalez G L, Gutierrez F, Hernandez L C, Humans, IND, Lin J P, Lorenzo S G, Lupo V, Madruga M, Magalhaes M, Marti M J, Marti S L, Martinez-Martin P, Martorell L, Mental Disorders/di [Diagnosis], Mental Disorders/et [Etiology], Middle Aged, Moreira F, Movement Disorders, Nardocci N, Ocular Motility Disorders/di [Diagnosis], Ocular Motility Disorders/et [Etiology], Ortigoza E J D, Pantothenate Kinase-Associated Neurodegeneration/co [Complications], Pantothenate Kinase-Associated Neurodegeneration/di [Diagnosis], Pantothenate Kinase-Associated Neurodegeneration/ge [Genetics], Parkinsonian Disorders/di [Diagnosis], Parkinsonian Disorders/et [Etiology], Perez D B, Pilot Projects, Pires P, PKANDRS, Pons R, Pujol M, Ramos L J, Rego P, Reproducibility of Results, Rodriguez-Blazquez C, scale development, Severity Of Illness Index, Stamelou M, Stefanis L, Tello C, Temudo T, Tomas V M, tone and motor problems, tool development, Tustin K, Vela L, Young Adult, Zorzi G
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. The Myoclonus/Piracetam Study Group
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Tags: 2015, Abraham S S, characteristics, Classical Rett syndrome, Deglutition, Disorders, Djukic A, dysfunction, Dyskinesia, dysmotility, Dysphagia, Dystonia, Early Pseudostationary stage, feeding difficulties, Fluoroscopy, Genotype, girls, mecp2 mutations, Otorhinolaryngology, Phenotype, Rett syndrome, Swallowing, Taragin B, tone and motor, Trajectory, Videofluoroscopic study of swallowing, Women
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
Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: A prospective 6-year follow-up study
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
Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes
Communication, Cognitive Development and Behavior in Children With Cornelia de Lange Syndrome (CdLS): Preliminary Results
Tags: 2014, AAC (augmentative and alternative communication), ability, Ajmone P F, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, autistic behavior, Behavior, behavioral symptoms, brachmann-delange syndrome, CdLS, Cereda A, characteristics, Costantino A, Dall'Ara F, De Lange syndrome, delange cornelia, externalizing behavior, Genetics & Heredity, INDIVIDUALS, intellectual disability (ID), language-skills, Milani D, Monti F, morphosyntactic, normal intelligence, Phenotype, Psychiatry, Rigamonti C, Selicorni A, tone and motor, Trajectory, Vizziello P
Comparative Effects of Bilateral Hand Splints and an Elbow Orthosis on Stereotypic Hand Movements and Toy Play In 2 Children 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
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
Comparison of three clinical rating scales in Friedreich ataxia (FRDA)
Tags: 2009, ataxia, Boesch S, Bürk K, characteristics, Degen I, Dimitriadis K, Dörr J M, Friedreich's ataxia, Haug V, Heck S, Hering S, Ivo A, Klockgether T, Klopstock T, Kruse B, Lindig T M, Mälzig U, Movement Disorders, Ratzka S, Schmitz-Hübsch T, Schols L, Schulz J B, Timmann D, tone and motor problems, Trajectory, Wolf S
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
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
Constipation in epidermolysis bullosa: successful treatment with a liquid fiber-containing formula
Tags: 1997, Adolescent Child, Atherton D, Child, Clayden G, Constipation, Constipation/co [Complications], Constipation/th [Therapy], epidermolysis bullosa, Epidermolysis Bullosa/co [Complications], Female, fiber-containing liquid formula Enrich, Food, Formulated, Haynes L, Humans, Male, Pediatric Dermatology, pharmacologic intervention, Preschool
Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment
Tags: 2016, aberrant behavior, American Journal of Medical Genetics Part C - Seminars in Medical Genetics, Autism spectrum disorder, Behavior, behavioral problems, Brain, characteristics, Checklist, Clemens J, Cornelia de Lange syndrome, De Lange syndrome, functional connectivity, Genetics & Heredity, Grados M A, hypoplasia, INDIVIDUALS, Kimball A, Kliewer M A, Kline A D, Lal T R R, Lopes T, mental-retardation, MRI, mutations, neuroanatomy, nipped-b, O'Connor J, Phenotype, Rebsamen S L, Trajectory
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
Deep brain stimulation for dystonia: A meta-analysis
Tags: 2006, Baron M S, BFMDRS, Brown R, Carne W, cervical dystonia, Cifu D X, deep brain stimulation, Dystonia, Electric Stimulation Therapy, Follow-up, globus-pallidus internus, hemidystonia, Holloway K L, IND, meige-syndrome, Meta-Analysis, Movement Disorders, Neuromodulation, Neurosciences & Neurology, primary generalized dystonia, Ramakrishnan V, Research & Experimental Medicine, Scale, severe tardive, spasmodic torticollis, stereotaxic techniques, surgical intervention, thalamic-stimulation, tone and motor problems
Deep brain stimulation in children: experience and technical pearls
Tags: 2011, Adolescent, Adult, Age, Air E L, Brain/ra [Radiography], Child, deep brain stimulation, Deep Brain Stimulation/ae [Adverse Effects], Deep Brain Stimulation/mt [Methods], Dystonia/pp [Physiopathology], Dystonia/th [Therapy], Factors Brain/pa [Pathology], Female, Follow-up Studies, Glutaric acidemia type I, Humans, Journal of Neurosurgery - Pediatrics, Lesch-Nyhan syndrome, Magnetic Resonance Imaging, Male, Movement, Ostrem J L, Preschool, Retrospective Studies, Sanger T D, secondary dystonia, Starr P A, Tomography, tone and motor problems, X-Ray Computed Treatment Outcome
Deep Brain Stimulation in Rare Inherited Dystonias
Tags: 2016, Adolescent, Adult, Aged, Aquino C C, Article, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], ataxia telangiectasia/dt [Drug Therapy], atypical dopa responsive dystonia/di [Diagnosis], atypical dopa responsive dystonia/dt [Drug Therapy], Baclofen/dt [drug Therapy], Beaulieu-Boire I, benzodiazepine derivative/dt [Drug Therapy], Brain Depth Stimulation, Brain Stimulation, Burke Fahn Marsden Dystonia Rating Scale, cerebellar ataxia/di [Diagnosis], cerebellar ataxia/dt [Drug Therapy], Child, chorea/di [Diagnosis], chorea/dt [Drug Therapy], Clinical Article, clinical assessment, Clinical Effectiveness, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], deep brain stimulation, diazepam/dt [Drug Therapy], disease duration, Disease Severity, Dystonia, dystonia/di [Diagnosis], dystonia/dt [Drug Therapy], Dystonic Disorder/su [surgery], dystonic disorder/th [Therapy], entacapone/cb [Drug Combination], entacapone/dt [Drug Therapy], escitalopram/dt [Drug Therapy], extrapyramidal syndrome/di [Diagnosis], extrapyramidal syndrome/dt [Drug Therapy], Fallis M, Fasano A, Follow Up, gabapentin/dt [Drug Therapy], haloperidol/dt [Drug Therapy], Hodaie M, Human, Inherited dystonia, Kalia S K, Lang A E, levodopa/dt [Drug Therapy], lorazepam/dt [Drug Therapy], Lozano A, MCM deficiency, methylmalonic aciduria/di [Diagnosis], methylmalonic aciduria/dt [Drug Therapy], Middle Aged, mirtazapine/dt [Drug Therapy], Moro E, motor dysfunction assessment, NCL, Nemaline myopathy, nemaline myopathy/di [Diagnosis], nemaline myopathy/dt [Drug Therapy], neuronal ceroid lipofuscinosis/di [Diagnosis], neuronal ceroid lipofuscinosis/dt [Drug Therapy], olanzapine/dt [Drug Therapy], outcome assessment, Phenotype, Poon Y Y, pramipexole/cb [Drug Combination], pramipexole/dt [Drug Therapy], Preoperative Care, Priority Journal, Rating Scale, risperidone/dt [Drug Therapy], School Child, selegiline/cb [Drug Combination], selegiline/dt [Drug Therapy], Surgery, surgical intervention, tetrabenazine/dt [Drug Therapy], therapy effect, time to treatment, tizanidine/dt [Drug Therapy], tone and motor problems, trazodone/dt [Drug Therapy], Treatment, trihexyphenidyl/cb [Drug Combination], trihexyphenidyl/dt [Drug Therapy], Trisomy/di [diagnosis], trisomy/dt [Drug Therapy], Wilson disease/di [Diagnosis], Wilson disease/dt [Drug Therapy], woodhouse sakati syndrome/di [Diagnosis], woodhouse sakati syndrome/dt [Drug Therapy], x trisomy/di [Diagnosis], x trisomy/dt [Drug Therapy]