Gap Analysis/ds/Research Module

Cognitive functions

This section is a technical reference. Jump to the next section on #Symptoms for more practical information.

Overview:

Improvements in medical interventions for people with Down's syndrome have led to a substantial increase in their longevity. Diagnosis and treatment of neurological complications are important in maintaining optimal cognitive functioning. The cognitive phenotype in Down's syndrome is characterized by impairments in morphosyntax, verbal short-term memory, and explicit long-term memory. However, visuospatial short-term memory, associative learning, and implicit long-term memory functions are preserved.

Seizures are associated with cognitive decline and seem to cause additional decline in cognitive functioning, particularly in people with Down's syndrome and comorbid disorders such as autism. Vision and hearing disorders as well as hypothyroidism can negatively impact cognitive functioning in people with Down's syndrome.

Dementia that resembles Alzheimer's disease is common in adults with Down's syndrome. Early-onset dementia in adults with Down's syndrome does not seem to be associated with atherosclerotic complications. Source: The Lancet

Typical Obstacles:

Motor Development Delays
Low Muscle Tone
Speech and Language Delays
Working Memory, (especially verbal short-term memory that can cause problems with thinking, problem solving and reasoning)
Number Skills Delays (understanding math, time and money are typical problems)

Auditory Discrimination

People with Down syndrome often struggle with short-term auditory memory. Most people use memory to process, hold, understand and assimilate spoken language. Auditory memory relates directly to the speed with which we can articulate words, and influences the speed at which people learn new words and learn to read.

Theories about memory suggest that words we hear are received and stored in our working memory in order to make sense of them. They are then transferred to a more long-term store. However, words are only retained in the working memory for two seconds unless consciously kept there by silently repeating them to oneself, called rehearsing. The amount of information we can retain within the two-second span is called the auditory digit span.

Is there a relationship between Down’s syndrome and working memory? Yes, many people with Down’s syndrome have difficulties in this area. Generally, long-term memory is not impaired; neither is the visual memory, which is often far stronger.

Source: Sandy Alton

Visual Recognition Skills

The cognitive profile observed in Down syndrome is typically uneven with stronger visual than verbal skills, receptive vocabulary stronger than expressive language and grammatical skills, and often strengths in reading abilities. There is considerable variation across the population of people with Down syndrome.

Many studies have included typically developing children matched for chronological age, for non-verbal mental age or on a measure of language or reading ability. Individuals with Down syndrome have also been compared to individuals with learning difficulties of an unknown origin and to individuals who have learning difficulties of a different aetiology (e.g., specific language impairment). The particular measures of language, reading or non-verbal ability used for matching can affect the conclusion drawn. There are also behavioral aspects of the Down syndrome phenotype other than non-verbal ability and language ability (such as motivational style) that may affect their performance on tasks, including attainment tests, and need to be taken into account.

In terms of education, there is strong evidence to suggest that the relatively recent policy of educating children with Down syndrome in mainstream schools has had a positive effect on language skills and academic attainments. This means that the findings of studies conducted a number of years ago need to be interpreted with caution.

Source: Margaret Snowling, Hannah Nash and Lisa Henderson

Symptoms

Intellectual and cognitive impairment and problems with thinking and learning and usually ranges from mild to moderate. Common symptoms are:

Short attention span
Poor judgment
Impulsive behavior
Slow learning
Delayed language and speech development
Reading is typically slow and laborious. If they are undiagnosed or diagnosed late, they may be illiterate or barely literate.
Concentration tends to fluctuate.
Poor and unusual spelling and grammar.
Handwriting is unusable or very messy.
Poor physical coordination
Difficulty remembering information (tends to fluctuate)
Difficulty with organizing and planning
Difficulty working within time limits
Difficulty thinking and working in sequences, which can make planning difficult
Visual processing difficulties, which can affect reading and recognizing places
Poor auditory processing skills
Listening to oral instructions difficult, tiring and confusing

Down syndrome symptoms vary with each person and appear at different times in their lives. Source: NIH

Challenges

Memory

Poor short term memory for facts, events, times, dates, symbols.
Poor working memory; i.e. difficulty holding on to several pieces of information at the same time. This is especially challenging while undertaking a task e.g. taking notes as you listen, addressing compound questions.
Mistakes with routine information e.g. giving your age, and phone number or the ages of children.
Inability to hold on to information without referring to notes.

Automatizing skills

Down syndrome do not tend to automatize skills very well, and a high degree of mental effort is required to carrying out tasks that other individuals generally do not feel requires effort. This is particularly true when the skill is composed of several sub-skills (e.g. reading and writing).

Information Processing

Difficulties with taking in information efficiently (this could be written or auditory).
Slow speed of information processing, such as a 'penny dropping' delay between hearing or reading something and understanding and responding to it.
Can get distracted easily so important to create a clutter free working environment this also helps with information processing.

Communication skills

Lack of verbal fluency and lack of precision in speech. (relevant for voice systems)
Word-finding problems.
Inability to work out what to say quickly enough.
Misunderstandings or misinterpretations during oral exchanges.
Sometimes mispronunciations or a speech impediment may be evident.

Literacy

Difficulty in acquiring reading and writing skills. Reading is likely to be slow.
If they are undiagnosed or diagnosed late, may be illiterate, barely literate and it will be very laborious
Where literacy has been mastered, problems continue such as pore spelling, difficulty extracting the meaning from written material, difficulty with unfamiliar words, and difficulty with scanning or skimming text.
Particular difficulty with unfamiliar or new language such as jargon.

Organization, Sequencing

Difficulty organizing a sequence of events.
Incorrect sequencing of strings of number and letter. (passwords, phone numbers)
Difficulty with time management and passage of time.

Navigation

Difficulty with finding the way to places or navigating - even in the context of building. Often get lost.
Also have problems navigating website and software applications so critical to consider navigation usability

Sensory Sensitivity

Sensitivity to noise and visual stimuli.
Impaired ability to screen out background noise / movement.
Sensations of mental overload
Tendency to "switch off".

Visual Stress

Some people with Down syndrome difficulties may experience visual stress when reading. Especially when dealing with large amounts of text. So brakes are often needed
People with DS can learn to read and often benefit from something being read out loud.

Coping Strategies

It must be emphasized that individuals vary greatly in their Specific Learning Difficulties profile. Key variables are the severity of the difficulties and the ability of the individual to identify and understand their difficulties and successfully develop and implement coping strategies.

By adulthood, many people with Specific Learning Difficulties are able to compensate through technology, reliance on others and an array of self-help mechanisms - the operation of which require sustained effort and energy. Unfortunately, these strategies are prone to break down under stressful conditions which impinge on areas of weakness.

Effects of stress

People are particularly susceptible to stress (compared with the ordinary population) with the result that increase their impairments.

Scenario and user stories

Scenario A is a high school student with Down syndrome

Although she can read at a 3rd grade level it is slow and she finds it difficult. Books geared towards a younger audience with a lot of pictures help. Plus she can comprehend and remember stories read by others. Test taking is very stressful and it helps when the teacher can help her take the test orally. She is strong on the computer especially when interested in the topics. She can surf the internet and do research but needs to be reminded to stay on task and not get distracted by other sites and advertisements. She does not use assistive technology but has in the past to improve her reading skills. The teacher aide has to remind her to stay on task during exercise. She can do simple research projects but only if supported with reminders and visual ques. Comprehension challenges so needs short task list with a lot of repetition. Often it will take the student longer to understand, learn and then manage the task.

Table of ICT Steps and challenges
Step	Challenge
Search query	Understanding the task
Scanning results	Capturing the right data and deciphering the content
Doing a short review of different option and finding the most appropriate	Will take a few times but with support can master the task
Finding the right content in the right document	Will take a few times but with support can master the task
Read the right content	Will take a few times but with support can master the task
Collecting the information	Will take a few times but with support can master the task
Coping for Citing the resources and collecting them with the right information	This requirement will be abstract so the student will need more support and many examples.
Remembering the process (re-finding it next time)	Will take a few times but with support can master the task
Saving the work	No problem
Putting it together and writing the paper	Her writing is poor and so this would be Out of scope of this user case. Instead the assistant will have to help this student complete this portion.

Scenario B is a job coach is working with an adult with Down syndrome

He is interning for a mail room position. He can read but his reading level is around 4th or 5th grade level and his writing skills are poor. His position requires him to check in documents and complete a form. The job coach has to remind him to stay on task during exercise especially when others are working close by. He can do simple word processing tasks and projects but needs repetition to learn to do the task independently. Comprehension is a challenge so he needs short task list with a lot of repetition and direction from the job coach. It is taking him longer to understand, learn and then manage the tasks. However the team members are enjoying his sweet nature and so helping him by providing short cut tips.

Table of ICT Steps and challenges
Step	Challenge
Enter the mail room system	Job coach has created a step by step check list that shows him how to enter the right system and follow the steps one at a time.
Sign in	Include in the check list – so quickly masters this task
Find the mail room document to enter the data	Will take a few times but with support can master the task
Complete the form especially the critical data	Will take a few times but with support can master the task. It also helps if the form document has been designed so that he can tab through the form logically. Plus the critical forms are visually labeled and the system does not allow you to progress unless the mandatory fields are completed.
Remember to add additional notes associated with the document	Will take a few times but with support can master the task
Collecting additional information if the document is not uniform	Will take a few times but with support can master the task
Remembering the process (re-finding it next time)	Will take a few times but with support can master the task
Saving the work	No problem
Logging the information into the work queue and showing work is complete	This take him several times to master but with cues and support from job coach he masters fairly quickly.

Scenario C a young man is a student and has a moderate learning disability

His school uses a computer in this classroom to help the students. He began to have successful interactions with the computer using the space bar, return key and arrows keys to manipulate cause effect programs as well as pre-literacy and pre-numeracy programs. He also plays educational games that has exposed him to a variety of more interactive software that uses graphics, animation, colors, music and other sounds.

This computer experience has improved his computer skills and he is now using reading programs to improve his reading and writing skills. He is getting good at searching the internet but sometimes gets distracted by advertisements or search results. He uses spell check and an online vocabulary program to help with his writing skills. He is being trained in word processing with the hope that he could be a receptionist or work in an office where his computer skills will come in handy. He also enjoys researching information on Google and Bing but sometimes needs to be reminded to stay on task. E-Learning and computer based training modules have helped him improve his skills

Table of ICT Steps and challenges
Step	Challenge
Enter the eLearning Course	He easily identified the eLearning course and clicks it to launch the course.
Sign in	Assistant shows him once and then he quickly masters this task
Find correct module	Will take a few times but with support can master the task
Begin course and follow course step by step	Will take a few times but with support can master the task. It also helps if the course has been logically designed so that he can complete the course and navigate it independently. It is important that the course does not time out because it takes him longer to complete the task
Take chapter quizzes and final test	It takes him longer to take the quizzes and tests so he needs to be allowed more time to complete the quiz and test.
Remembering the process (re-finding it next time)	Will take a few times but with support can master the task
Saving the work	No problem
Sign out	This take him several times to master but with practice can master quickly.

Summary of existing research and guidelines

Aim to ensure that written material takes into account the visual stress experienced by some Down syndrome people, and to facilitate ease of reading. Adopting best practice for Down syndrome readers has the advantage of making documents easier on the eye for everyone.

Font (Remember people with Down syndrome can be easily distracted and confused)

• Use a plain, evenly spaced sans serif font such as Arial and Comic Sans. Alternatives include Verdana, Tahoma, Century Gothic, Trebuchet. • Font size should be 12-14 point. Some dyslexic readers may request a larger font. • Use dark colored text on a light (not white) background.

Headings and Emphasis

Avoid underlining and italics: these tend to make the text appear to run together. Use bold instead.
AVOID TEXT IN BLOCK CAPITALS: this is much harder to read.
For Headings, use larger font size in bold, lower case.
Boxes and borders can be used for effective emphasis.

Layout

Use left-justified with ragged right edge.
Avoid narrow columns (as used in newspapers).
Lines should not be too long: 60 to70 characters.
Avoid cramping material and using long, dense paragraphs: space it out.
Line spacing of 1.5 is preferable.
Avoid starting a sentence at the end of a line.
Use bullet points and numbering rather than continuous prose.

Writing Style

Use short, simple sentences in a direct style.
Give instructions clearly. Avoid long sentences of explanation.
Use active rather than passive voice.
Avoid double negatives.
Be concise.

Increasing accessibility

Flow charts are ideal for explaining procedures.
Pictograms and graphics help to locate information.
Lists of 'do's and 'don'ts' are more useful than continuous text to highlight aspects of good practice.
Avoid abbreviations if possible or provide a glossary of abbreviations and jargon.
For long documents include a contents page at the beginning and an index at end.

Note: Checking Readability.

To set your spell checker in Word 2003 to automatically check readability, go to Tools, Options, Spelling, and Grammar, then tick the Readability request. Word will then show your readability score every time you spell check. In Word 2007 Click the Microsoft Office Button, and then click Word Options. Click Proofing. Make sure Check grammar with spelling is selected. Under When correcting grammar in Word, select the Show readability statistics check box. Check long documents in sections, so that you know which parts are too hard.

RNIB Web Access Centre: http://www.rnib.org.uk/professionals/webaccessibility/Pages/web_accessibility.aspx. BBC: My web, my way. Making the web easier to use: http://www.bbc.co.uk/accessibility/guides/allguides_index.shtml

Extent to which current needs are met

Potentials and possibilities

Prevalence

The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder and it is believed there are about 250,000 families in the United States of America who are affected by Down syndrome.

Sixty to 80 percent of children with Down syndrome have hearing deficits. Forty to 45 percent of children with Down syndrome have congenital heart disease. Intestinal abnormalities also occur at a higher frequency in children with Down syndrome.

Children with Down syndrome often have more eye problems than other children who do not have this chromosome disorder. Another concern relates to nutritional aspects. Some children with Down syndrome, in particular those with severe heart disease often fail to thrive in infancy. On the other hand, obesity is often noted during adolescence and early adulthood. These conditions can be prevented by providing appropriate nutritional counseling and anticipatory dietary guidance.

Thyroid dysfunctions are more common in children with Down syndrome than in other children. Skeletal problems have also been noted at a higher frequency in children with Down syndrome. Other important medical aspects in Down syndrome, including immunologic concerns, leukemia, Alzheimer disease, seizure disorders, sleep apnoea and skin disorders, may require the attention of specialists in their respective fields.

Source: World Health Organization - http://www.who.int/genomics/public/geneticdiseases/en/index1.html