For example, children with DS need the usual immunizations and well child care procedures as recommended by the American Academy of Pediatrics. However, children with DS have an increased risk of having certain congenital anomalies. Both children and adults may develop certain medical problems that occur in much higher frequency in individuals with DS. Described below is a checklist of additional tests and evaluations recommended for children and adults with DS.
In particular, this paper presents the view that a cognitive endophenotype, specified in terms of specific cognitive processes involving the spatial, temporal and attentional domains, can be used to generate an explanation of the neurocognitive foundation of the common impairments found in these disorders.
The paper then examines data from experimental tests of spatiotemporal and executive cognitive function acquired from children with one of several disorders to determine whether such a cognitive endophenotype holds promise for moving from descriptions of to explanations for the impairments observed and whether prescriptions for therapeutic interventions might flow from such an account.
It introduces the concept of a cognitive endophenotype in order to help explain the similar pattern of impairments across the syndromes.
It explores the explanation of diverse impairments in higher-order visual, spatial, temporal, numerical and executive cognitive competencies deriving from origins in more basic attentional and spatial cognitive dysfunctions. The importance of a developmental approach to understanding dysfunction is stressed.
Cognition, Genetics, Syndrome, Child, Spatial, Numerical The symptoms that are associated with genetic syndromes generally form a large and diverse array of physical and behavioral characteristics. Behavioral scientists have tended to focus on global impairments measured in terms of intelligence quotients or IQ while clinical geneticists concentrated on describing physical features, medical complications, salient traits and degree of retardation associated with specific genetic etiologies 1.
This paper will concentrate on a particular cognitive phenotype observable in children from several populations that have clearly defined genetic disorders. Such studies are carried out using two complementary sets of tools. Standardized testing has strong descriptive power and enables testing over many domains at once.
However, it has weak explanatory power because the behavior measured by such tests is quite complex and hard to link directly to the cognitive and neurobiological substrates that generate it.
In other words, it reveals little about the mental representations being used, the manner in which they are processed, the brain circuits upon which those computations depend and the neurotransmitters involved.
Alternatively, researchers using cognitive experimentation studies develop small sets of experiments, usually in the form of computer-based tasks. They are designed to test hypotheses about how specific cognitive functions work and the nature of the representations that they process.
Such experiments are increasingly used in the context of functional neuroimaging studies to explore relationships between brain structure and cognitive function.
Hypotheses are evaluated by determining whether or not the predicted performance patterns were observed. Typically new, more detailed, hypotheses emerge from such analyses, further experiments are designed, and the process progresses towards an ever more highly specified explanatory account.
Such cognitive neuroscience studies can investigate how information is processed, which brain circuits and even neurotransmitters are involved, and how these interact. Of course, there are limitations to this method also.
The range of behaviors tested is, by design, very limited, the samples tend to be small and typically no normed population data are present. Therefore, any individual experiment has weak reliability and needs to be replicated.
Also, the training required for this method means that results are not easily interpretable by other professionals. However, the tradeoff is that is the explanatory power of this method is high. Essentially, what experimental cognitive studies of genetic disorders attempt to develop is similar to the idea of an endophenotype, although no hereditary component is necessarily implied.
This concept is being used to simplify investigations of the biological basis of psychiatric disorders by decomposing the entirety of their behavioral manifestations into discrete components more amenable to analysis. This paper will briefly review the phenotypic profiles generated for a small set of genetic disorders with the use of standardized neuropsychological instruments.
The goal of such studies is to develop explanatory accounts of why particular sets of observed impairments consistently co-occur. From that it is hoped that predictions and inferences about areas of function not directly studied will be possible, along with the generation of hypotheses about the nature and potential efficacy of cognitive and behavioral interventions.
This means that the demands of specific mental activities, such as counting, call upon a range of foundational or component processes that vary as a function of the demands of the task. In counting a set of physical objects these would include: Some of these same components would be required in other tasks, such as using landmarks to find a specific room in a building.Richard Engel opens up about learning that his 2-year-old son, Henry, has a variation of Rett syndrome, a neurological disorder rare in boys that means he can't walk, talk.
Jun 11, · The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. The B vitamins folic acid, vitamin B12 and B6 are essential for neuronal function, and severe deficiencies have been linked to increased risk of neurodevelopmental disorders, psychiatric disease and dementia.
Down syndrome is a genetic disorder present right at birth, which affects as many as 1 child per every live births. The condition is named after Langdon Down, a . Ehlers-Danlos syndrome is a group of genetic disorders that cause loose joints and skin.
The condition can also affect tissue, organs, bones and blood vessels. Down syndrome occurs when an individual has a full or partial extra copy of chromosome This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome; There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%.