Browse Items (15 total)
- Tags: Genetics & Heredity
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
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
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
The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: Part II: reliability and validity
Tags: 2012, autism spectrum disorders, Behavior Problems Inventory, behavioral problems, Checklist, Children, Developmental-disabilities, diagnostic-assessment, Didden R, Disabilities, Dumont E L M, Education & Educational Research, factor structure, fit indexes, Genetics & Heredity, handicapped dash, Hastings R, intellectual, Journal Of Intellectual Disability Research, Kroes D B H, Matson J L, Neurology, Neurosciences &, profound mental-retardation, Psychiatry, rating form, Rehabilitation, Reliability, Rojahn J, Rowe E W, scale development, severely, Sharber A C, tool development, unspecified ID, VALIDATION, Validity
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome)
Tags: 11q terminal deletion disorder, 2008, Behavior, Biotechnology & Applied Microbiology, Braam W J, characteristics, Children, Curfs L M G, Didden R, Disabilities, disturbance, Ethics, Genetic Counseling, Genetics & Heredity, Grossfeld P D, Jacobsen syndrome, Korzilius H, Maas A, Medical, Questionnaire, Research & Experimental Medicine, Sleep, sleep disturbance/disorders, sleep problems, Smits M G, Trajectory
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
Trisomy 18: A Survey Of Opinions, Attitudes, And Practices Of Neonatologists
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
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
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
Tags: 2007, anxiety, attention disorder, Autism, autistic-like features, Basile E, behavioral problems, behavioural phenotypes, brachmann-delange syndrome, CdLS, characteristics, Children, cognitive level, Communication, compulsive disorders, Cornelia de Lange, De Lange syndrome, Education & Educational Research, Genetics & Heredity, hyperactivity, Intellectual Disability, Intelligence, Journal Of Intellectual Disability Research, language-skills, mental-retardation, Molteni M, Neurology, Neurosciences &, nipbl, normal, Psychiatry, Rehabilitation, Self-Injurious behavior, self-injury, self-mutilative behavior, Selicorni A, Syndrome, Trajectory, Villa L
Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
Tags: 2009, American Journal of Medical Genetics Part A, Axelrad M E, behavioral, characteristics, cognitive, costello syndrome, Disability, features, Fehlis J E, functioning, Genetics & Heredity, Gripp K W, Hopkins E, HRAS, longitudinal assessment, MAP kinase pathway, p.G12A, p.G12S, p.G13C, p.T581, Phenotype, Schwartz D D, Sol-Church K, Stabley D L, tone and motor, Trajectory
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
Self-injurious behaviour in Cornelia de Lange syndrome: 2. association with environmental events
Tags: 2009, Arron K, behavioral problems, behavioural phenotype, brachmann-delange syndrome, Children, Cornelia de Lange syndrome, De Lange syndrome, demand denial no contact, descriptive analysis, Education & Educational Research, Environment, environmental conditions, functional-analysis, Genetics & Heredity, Hall S, INDIVIDUALS, Intervention, Journal Of Intellectual Disability Research, Neurology, Neurosciences &, Oliver C, Phenomenology, Phenotype, prader-willi syndrome, Prevalence, Psychiatry, psychological intervention, Rehabilitation, self-injurious behaviour, self-injury, Sloneem J, social reinforcement, Symptoms
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology
Tags: 2009, Arron K, behavioral problems, behavioural phenotype, brachmann-delange syndrome, characteristics, compulsive behaviors, compulsive behaviour, Cornelia de Lange syndrome, De Lange syndrome, Education & Educational Research, Genetics & Heredity, Hall S, hyperactivity, INDIVIDUALS, Intellectual disabilities, Journal Of Intellectual Disability Research, maladaptive behavior, mental-retardation, mutilative behavior, Neurology, Neurosciences &, Oliver C, People, Phenotype, prader-willi-syndrome, Psychiatry, rating-scale, Rehabilitation, repetitive behaviour, self-injurious behaviour, Sloneem J, stereotyped behaviour, stereotyped disorders, Trajectory
Sleep problems and daytime problem behaviours in children with intellectual disability
Tags: 2002, Adolescents, adults, Behavior, breathing difficulties, challenging behavior, characteristics, Children, community-based sample, daytime problem behaviour, de Vries M, Didden R, difficulties, Disorders, disturbance, Education & Educational Research, Genetics & Heredity, handicapped-children, Intellectual Disability, Journal Of Intellectual Disability Research, Korzilius H, Neurology, Neurosciences &, Psychiatry, Rehabilitation, Rett syndrome, severe learning-disabilities, sleep disturbance, sleep problem, Trajectory, Tuberous Sclerosis, urinary incontinence, van Aperlo B, van Overloop C