Down's Syndrome Flashcards
what is the incidence of DS?
Down Syndrome is the most common known congenital condition associated with intellectual disability, with an incidence of between 1 and 700-1000 live births.
how is DS caused?
the syndrome is caused by the presence of a third copy of chromosome 21.
how is DS characterised?
Down Syndrome is characterised by distinctive features, including short stature, a ‘flat’ face with epicanthic folds at the inner corners of the eyes, have a protruding tongue and a single palmar crease in each hand. these features are often sufficient for the syndrome to be reliably diagnosed in infancy.
are there other comorbidities with DS?
congenital heart defects occur in almost half of individuals with Down syndrome.
hearing impairments, visual difficulties, hypothyroidism and dental problems are found in the majority of cases.
they are more liable to other medical disorders than the general population, including arthritis, diabetes, gastrointestinal and dermatological conditions.
when are estimates of ability in DS obtained?
the highest estimates of ability are obtained in infancy and early childhood.
does IQ in DS remain the same?
because the rate of progress is slower than for typically developing peers, IQ tends to fall from childhood onwards.
what is the level of intellectual disability associated with DS?
DS is associated with moderate to severe intellectual disability which remain stable into the mid 40’s.
but acquisition of academic, motor language and adaptive skills continues into adolescence or early adulthood. Performance on some visuospatial perception, short-term memory and reasoning tasks tend to be better than on comparable verbally mediated tasks.
unevenness within the visual spatial domain is possibly related to executive dysfunction.
what are the marked difficulties with DS?
there are widespread and marked difficulties of verbal cognition and linguistic function, most pronounced in expressive language and grammar and impaired speech articulation.
this is reflected in limited literacy and reading comprehension.
are there significant behaviours associated with DS in youth?
younger and less able children with DS tend to exhibit relatively frequent repetitive behaviours and psychiatric conditions like ADHD.
anxiety disorders may be diagnosed in as many as 15% of children.
the risk of affective disorders including anxiety and depression increases as the child grows into adolescence and adulthood.
are there significant behaviours associated with DS in older age?
individuals with DS over 40 years of age are prone to Alzheimer’s disease with increasing age.
this diagnosis can only be confirmed by post-mortem examination, but its course is marked by behavioural changes typical of dementia, including apathy, tearfulness, deterioration of self-care skills and cognitive decline.
lower functioning individuals are especially susceptible to the most severe deterioration.
are there implications for assessment and management of DS?
DS is the most widely recognised genetic condition associated with intellectual disability and there is a degree of public awareness of a distinctive phenotype.
what can done to counteract verbal impairments?
the cognitive profile of higher visuospatial than verbal abilities has implications for intervention strategies.
signing and visual methods of teaching may enable children to access and use language in ways that circumvent auditory and verbal limitations.
Integrating various modalities and tasks, for example combining manual signs with speech, embedding learning in game for maths, as part of a holistic approach.
parent support of physical activity may also enhance cognitive function.
is it important to monitor emotional wellbeing?
monitoring of emotional wellbeing is necessary, especially in adolescents and with regard to mood disorders.
activities to build self-esteem may be important preventative interventions, while depression and anxiety can be treated using standard psychopharmacological and psychological interventions, including CBT for older and higher functioning individuals.
