A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms

• Published in: Journal of intellectual disability research Vol. 53; no. 6; pp. 493 - 500
• Main Authors: Woodcock, K. A., Oliver, C., Humphreys, G. W.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.06.2009; Blackwell Publishing; Wiley-Blackwell; Wiley Subscription Services, Inc
• Subjects: Adolescent; Arousal - genetics; Arousal - physiology; Behavior Problems; behavioural phenotype; Biological and medical sciences; Brain - physiopathology; Child; Child Behavior Disorders - genetics; Child Behavior Disorders - physiopathology; Child Behavior Disorders - psychology; Child clinical studies; Child, Preschool; Chromosome Aberrations - classification; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 15 - genetics; Cognition & reasoning; Cognition Disorders - genetics; Cognition Disorders - physiopathology; Cognition Disorders - psychology; Cognitive Ability; cognitive phenotype; Complex syndromes; Developmental disorders; Disabilities; Emotions - physiology; Environmental aspects; Environmental Influences; Evaluation Methods; executive functioning; Female; Fragile X Syndrome - genetics; Fragile X Syndrome - physiopathology; Fragile X Syndrome - psychology; Genetic Disorders; Genetic factors; Genetic Predisposition to Disease - genetics; Genetic Predisposition to Disease - psychology; Genetics; Genomic Imprinting - genetics; Genotype; Genotype & phenotype; Humans; Individuality; Infant; Infant, Newborn; Intelligence - genetics; Intelligence - physiology; Learning disabilities; Male; Medical genetics; Medical sciences; Mental Retardation; Metabolic diseases; Miscellaneous; Obesity; Phenomenology; Phenotype; Phenotypes; Physiology; Prader-Willi syndrome; Prader-Willi Syndrome - genetics; Prader-Willi Syndrome - physiopathology; Prader-Willi Syndrome - psychology; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; repetitive questions; Social Environment; Stereotyped Behavior - physiology; Symptoms (Individual Disorders); temper outbursts; Uniparental Disomy - genetics; Endocrinopathy; Human; Executive function; Prader-Willi syndrome; Diseases of the osteoarticular system; Environmental factor; Personality; Cognition; Review; repetitive questions; Genetic determinism; Temperament; Genetic disease; behavioural phenotype; Phenotype; temper outbursts; Theoretical model; Genotype environment interaction; Behavioral analysis; Genetics; cognitive phenotype; Complex syndrome; executive functioning; Prader Labhart Willi syndrome
• ISSN: 0964-2633; 1365-2788
• DOI: 10.1111/j.1365-2788.2009.01167.x

Background  Behavioural phenotypes associated with genetic syndromes have been extensively investigated in order to generate rich descriptions of phenomenology, determine the degree of specificity of behaviours for a particular syndrome, and examine potential interactions between genetic predispositions for behaviour and environmental influences. However, relationships between different aspects of behavioural phenotypes have been less frequently researched and although recent interest in potential cognitive phenotypes or endophenotypes has increased, these are frequently studied independently of the behavioural phenotypes. Method  Taking Prader–Willi syndrome (PWS) as an example, we discuss evidence suggesting specific relationships between apparently distinct aspects of the PWS behavioural phenotype and relate these to specific endophenotypic characteristics. Results  The framework we describe progresses through biological, cognitive, physiological and behavioural levels to develop a pathway from genetic characteristics to behaviour with scope for interaction with the environment at any stage. Conclusions  We propose this multilevel approach as useful in setting out hypotheses in order to structure research that can more rapidly advance theory.