Browse Items (167 total)

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

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

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

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

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

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

Tags: 1993, achondroplasia, Archives in Disease in Childhood, breathing difficulties, characteristics, Everett F, Fagan E, Sillence D, Sullivan C E, Trajectory, upper airways obstruction, Waters K A

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

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: 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

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: 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: 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

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

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

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

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

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

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: 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

Tags: 1990, Brain and Development, characteristics, Neurosciences & Neurology, Nomura Y, Rett syndrome, Segawa M, sleep disturbance/disorders, sleep-wake cycle, Trajectory

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

Tags: 1995, Adolescent, Aguigah G, Aksu F, apnea, breathing difficulties, Buschatz D, Case Report, characteristics, Conference Paper, Disorder of respiratory control, Female, Human, hyperventilation, hypocapnia, Journal of Sleep Research, Polygraphic recording, Polysomnography, Priority Journal, Respiratory Tract Disease, Rett syndrome, Rett Syndrome/di [Diagnosis], Schluter B, School Child, Trajectory, Trowitzsch E

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: 2006, characteristics, Developmental Medicine and Child Neurology, Dusing S C, Escolar M L, Female, Humans, Infant, Male, Mercer V, Motor Activity, MPSI, Mucopolysaccharidosis I, Rosenberg A, Thorpe D, tone and motor problems, Trajectory

Tags: 2013, Abby L, Aggressive/destructive behavior, Barnard-Brak L, Behavior, behavioral problems, behaviors, characteristics, Cornelia de Lange syndrome, De Lange syndrome, delange-syndrome, Dotson W, Intellectual disabilities, Journal of Developmental and Physical Disabilities, Medeiros K, Phenomenology, Prevalence, Rehabilitation, Reliability, repetitive, Richman D, Rojahn J, Scale, Self-injurious, self-injurious-behavior, short form, Stereotyped Behavior, Trajectory, Validity, Wei T L

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: 2003, Adolescent, Adult, Anticonvulsants/therapeutic use, Barabas G, behavioral problems, Carbamazepine/therapeutic use, characteristics, Child, Child Preschool, Chromosomes Human X/genetics, Developmental Medicine and Child Neurology, Diazepam/therapeutic use, Eddey G E, Female, Giacomini K D, Humans, Infant, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/genetics, Male, Reck J F, Robey K L, Self-Injurious Behavior/diagnosis/drug therapy, self-injury, Surveys And Questionnaires, Trajectory

Tags: 2012, Benke J R, Boss E F, characteristics, Cornelia de Lange syndrome, De Lange syndrome, insomnia, International Journal of Pediatric Otorhinolaryngology, Ishman S L, Kimball A, Kline A D, Levy H P, melatonin, Mettel T L, Otorhinolaryngology, Pediatrics, Rajan R, Sleep, sleep disturbance, sleep disturbance/disorders, Sleepiness, smith-magenis-syndrome, 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, behavioral problems, Byiers B J, characteristics, hand stereotypy, negative affect, Payen A, Quest K M, Research in Developmental Disabilities, Rett syndrome, stereotypy, Symons F J, tone and motor problems, Trajectory

Tags: 1990, Adolescence, Adolescent, Adult, Aging, Bowman L, Brain and Development, characteristics, Child, Child Preschool, Female, Fisher W, Human, Humans, Infant, Kiesewetter K, Moser H, NET Files, Piazza C C, Rett syndrome, Rett Syndrome/co [Complications], Rett Syndrome/complications/drug therapy, Rett Syndrome/dt [Drug Therapy], Sleep Disorders/co [Complications], sleep disturbance/disorders, Sleep Stages/ph [Physiology], Sleep Stages/physiology, Sleep Wake Disorders/complications, Trajectory

Tags: 2001, Adolescent, Age Factors, Brain, Brain and Development, characteristics, Child, Child Preschool, Christodoulou J, Cohort Studies, Ellaway C, Epilepsy, Female, Humans, Leonard H, Movement Disorders, Peat J, Rett syndrome, Sleep, sleep disturbance/disorders, Sleep Wake 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: 2017, angelman-syndrome, behavioral problems, bowel incontinence, characteristics, Children, Constipation, Curfs L, Education & Educational Research, Einfeld S, enuresis, Equit M, features, fecal incontinence, hirschsprungs-disease, Mowat D, Mowat-Wilson syndrome, Niemczyk J, Phenotype, psychopathology, Rehabilitation, Research in Developmental Disabilities, Trajectory, urinary incontinence, urinary-incontinence, von Gontard A, Wagner C

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: 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: 2014, Affect, American Journal on Intellectual and Developmental Disabilities, autistic, Behavior, behavioral phenotypes, behavioral problems, behavioral-phenotype, characteristics, Cornelia de Lange syndrome, Cri-du-chat, De Lange syndrome, delange-syndrome, Education & Educational Research, Follow-up, fragile-x-syndrome, genetic syndromes, genotype-phenotype correlations, interest, Longitudinal, mental-retardation, Mood, Moss J, Nelson L, Oliver C, PERVASIVE DEVELOPMENTAL DISORDERS, pleasure, Rehabilitation, spectrum disorders, Trajectory, williams-syndrome

Tags: 2017, behavioral problems, Bergsaker D K, characteristics, chromosome 4p deletion, European Journal of Medical Genetics, Hoxmark L B, Hunn B S, Nag H E, Schmidt S, sleep disturbance, tone and motor problems, Trajectory

Tags: 2015, Actigraphy, autistic spectrum disorders, Bigger B, Canal M, characteristics, circadian rhythms, CONTROLLED-TRIAL, disturbance, Hare D J, Intellectual Disability, Jones S, Journal of Neurodevelopmental Disorders, Light, Mahon L V, melatonin, MPSIIIA, MPSIIIB, Mucopolysaccharidosis type III, Multiple disabilities, Mumford R A, Neurosciences & Neurology, Rare Disease, Sanfilippo, Sleep, sleep disturbance/disorders, sleep problems, smith-magenis-syndrome, Therapy, Trajectory