Browse Items (167 total)

Tags: 2009, characteristics, Croarkin E, DiProspero N, Friedreich's ataxia, Harris-Love M, Journal of Neurologic Physical Therapy, Maring J, Pfalzer L, Siegel K, tone and motor problems, Trajectory

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

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

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

Tags: 2013, 22q11.2 Deletion Syndrome, Beemer F A, behavioral problems, characteristics, de Veye H, Duijff S N, internalizing behaviors, Klaassen P W J, Research in Developmental Disabilities, Sinnema G, Trajectory, Vorstman J A S

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

Tags: 2009, Anderson V, Beauchamp M H, behaviour, Boneh A, characteristics, Glutaric acidemia type I, Journal Of Inherited Metabolic Disease, tone and motor, Trajectory

Tags: 2014, 22q11.2 Deletion Syndrome, alertness, Attention, attention control, Beaton E A, characteristics, Harvey D J, Journal of Neurodevelopmental Disorders, Quintero A I, Ross J L, Simon T J, Trajectory

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

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

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

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

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

Tags: 2012, 22q11.2 Deletion Syndrome, adaptive behavior, Age, anxiety, behavioral problems, characteristics, Debbane M, Depression, Eliez S, European Child and Adolescent Psychiatry, Fabbro A, IQ, Rizzi E, Schneider M, Trajectory

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

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

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

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

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

Tags: 2016, Behavior, breathing difficulties, characteristics, Cianfaglione R, Clarke A, Felce D, hand stereotypies, Hastings R P, Journal of Developmental and Physical Disabilities, Kerr M, Meek A, Rett syndrome, self-injury, stereotypy, tone and motor problems, Trajectory

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

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

Tags: 2007, Albåge M, apnea, breathing difficulties, characteristics, Eriksson M, Fernell E, hypoventilation, Katz-Salamon M, Lagercrantz H, Pediatric Neurology, Rett syndrome, Rohdin M, shallow breathing, Trajectory

Tags: 1979, Annals Of Neurology, Belluomini J, characteristics, Chien L, Lemmi H, Neurosciences & Neurology, Niakan E, Pelizaeus-Merzbacher disease, REM sleep, sleep disturbance/disorders, Summitt R L, Trajectory

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

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

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

Tags: 2003, characteristics, feeding difficulties, feeding skills, irregular breathing problems, Isaacs J S, Journal of the American Dietetic Association, Lane J, Murdock A, Nutrition & Dietetics, Percy A K, Rett syndrome, Trajectory

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

Tags: 2008, abnormal esophageal peristalsis, Bibat G, characteristics, Cuffari C, Darbari A, Desbiens J, Dysphagia, feeding difficulties, Fortunato JE, Gastroesophageal Reflux, GERD, Journal of Applied Research, Koch K, Naidu S, Rett syndrome, Trajectory

Tags: 2009, adult age, Canevini M P, characteristics, hand stereotypies, La Briola F, movement disorder, Movement Disorders, movement-disorders, Neurosciences & Neurology, retardation, Rett syndrome, stereotypy, tone and motor problems, Trajectory, Vignoli A

Tags: 2012, characteristics, cri-du-chat syndrome, Curfs L M G, Didden R, Jacobsen syndrome, Korzilius H, Maas A, Research in Developmental Disabilities, sleep disturbance/disorders, Trajectory

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

Tags: 2013, Bruns D A, characteristics, chromosome 18 trisomy, feeding difficulties, Gastroesophageal Reflux, GERD, Springer S A, Topics in Clinical Nutrition, Trajectory

Tags: 2012, Adams H, Augustine E F, Behavior, characteristics, Cialone J, De Blieck E A, Dure L S, Journal Of Inherited Metabolic Disease, Kwon J M, Levy E, Marshall F J, Mink J W, NCL3, Newhouse N, Ramirez-Montealegre D, Rose K R, tone and motor, Trajectory, Vierhile A

Tags: 2003, breathing difficulties, Cass Hilary, characteristics, Charman T, Constipation, Developmental Medicine and Child Neurology, feeding difficulties, Owen L, Reilly S, Rett syndrome, sleep disturbance, Slonims V, Trajectory, Weekes L, Wigram T, Wisbeach A

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

Tags: 2003, Abnormalities Multiple/physiopathology/psychology, Adolescent, Akatsuka A, American Journal of Medical Genetics Part A, Aoyama K, behavioral problems, characteristics, Child, Child Preschool, costello syndrome, feeding difficulties, Female, Fueki N, Fukushima Y, Humans, Infant, Intellectual Disability/physiopathology/psychology, Irritability, Kawame H, Kurosawa K, Male, Masuno M, Matsui M, Matsuo M, Miyatsuka Y, Ochiai Y, Ohashi H, sleep disturbance, Suzuki K, Trajectory

Tags: 2 hydroxypropyl beta cyclodextrin, 2018, 94035-02-6 (2 hydroxypropyl beta cyclodextrin), Adolescent, Adult, Alter K, Article, balance impairment, body equilibrium, case control study, characteristics, Child, Clinical Article, clinical evaluation, Comparative Study, coordination disorder, disease severity assessment, Farhat N, Female, gait disorder, Human, Human Development, intervention study, Journal of Child Neurology, Keener L A, Male, molecular stability, motion analysis system, Neurologic Examination, Niemann Pick disease, NIH NPC Neurologic Severity Scale, NPC, outcome assessment, performance, Porter F, Preschool Child, Priority Journal, Research, Retrospective Study, Sansare A, School Child, scoring system, spatiotemporal analysis, stabilography, Stanley C, tone and motor problems, Trajectory, Upper limb, vts 270, Young Adult, Zampieri C

Tags: 2003, Adolescent, Adult, American Journal of Medical Genetics Part A, characteristics, Child, Child Preschool, De Lange syndrome, Esophagogastric Junction, feeding difficulties, Female, Gastroesophageal Reflux, Humans, Infant, Luzzani S, Macchini F, Male, Milani D, Selicorni A, Trajectory, Valadè A