(Español) Ponencia sobre personas con síndrome de Down

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Neuropsychologist Laura Videla responds to pending questions about her presentation on neuropsychological assessment of cognitive impairment in people with Down syndrome, which was given in March 2020 in #YoMeQuedoEnCasa learning with #NeuronUPAcademy.

If you would like to see the paper, it is available exclusively on the NeuronUP platform

Questions about the presentation on neuropsychological assesment of cognitive impairment in poeple with Down syndrome.

1. Ibeth Sosa: Good morning, from Latin America, from Colombia, I am a candidate for a Master’s degree in Clinical Neuropsychology, I am doing my research work, specifically with older adults with hypertension. We want to know the neuropsychological profile of these patients in terms of their cognitive functioning, to see if or how much the hypertension is influenced by the hypertension and if it can produce or affect a mild cognitive impairment. What recommendations would you give me for this research work? Thank you very much.

Hi, Ibeth, nice to meet you. I’m very sorry I can’t help you, unfortunately the subject of your thesis is outside my field of knowledge. My recommendation is more on a methodological level, and that is that before you start working on the subject you should do a very good bibliographic search and try to be up to date with everything that is published in relation to HTA and cognition. This will help you, for several things. Firstly, it will help you to define your objectives and hypotheses and also to know which are the future lines to work on. It will also help you to define your protocol for neuropsychological examination because you will see which tests are the most useful and which have shown the greatest sensitivity in this type of patient.

I hope it will be useful to you. Greetings and good luck!

Laura

1. Clara Trompeta. First of all, I would like to congratulate Laura because I think she has made it very clear and interesting. I am Clara Trompeta, a neuropsychologist working on research into cognitive impairment and parkinsonism. My doubt is directed to the last case you mentioned, it has more to do with the pharmacological treatment than with neurospsycology, but I would like to know why it is decided to give a neuroleptic to the patient to improve that picture more related to prefrontal problems once it has been ruled out by amnesia. Thank you

Thank you very much for your comment Clara, I’m glad you found the talk interesting. What I wanted to convey to you with the last case was that not all cognitive decline in patients with DS is due to Alzheimer’s disease, the importance of making a good diagnosis makes a difference and that neuropsychology can help us in this process. Having said this, the case I presented to you has a history of longstanding behavioral alteration (with aggression, challenging behaviors, etc.), but I did not give you all the information so as not to expand on it. This patient is also being followed up with psychiatry and many different strategies have been tried.

Quetiapine is a drug that has been shown to improve behavioral disturbances in patients with dementia and, in general, from our experience, we have seen that people with DS (with and without dementia) also respond well to this drug. Like all neuroleptic drugs, it has antidopaminergic effects, so a common side effect may be parkinsonism. However, quetiapine produces the least amount of parkinsonism, which is why, given its good profile, it is the one most often used in these cases for the management of behavioral disorders.

I hope this answers your question. Thanks!

Laura

3. Nuria Reyes Alonso: What tests do you go through when the adult has had no stimulation throughout his life, cannot read or write, and his level of comprehension is very low? The CAMDEX test is only for mild and moderate mental disability. Thank you

Hi, Nuria,

Unfortunately the options for exploring the cognition of patients with more severe intellectual disabilities is complicated. I personally try to always give them the CAMDEX and even the CRT, sometimes they are useless, but other times you are surprised by the capabilities of these patients even if they do not have a very extensive language. If you get through, the scores you get will be low, but they can still be helpful if you follow up longitudinally. Another alternative is to use simple tests and battery subtests that you think can be adapted to that patient’s level (for example CAMCOG praxias, some Test Barcelona subtests, children’s tests or understanding Haxby commands). Although we do not use it, there is also the SIB – Severe Impairment Battery – ( Saxton et al., 1993) which is a test for severe ISDs with 40 items and takes about 20 minutes to pass.

On the other hand, in these cases, more than the usefulness of neuropsychological tests, I recommend that you make a very good anamnesis with a caregiver close to the patient, who knows him very well and if possible for some time because you can get a lot of information and you can assess all the changes well. In this case, you can also use the CAMDEX-DS interview and the DMR scale.

I also know that TEA was waiting to validate a computerized test for severe intellectual disability called ECDI-SE, but I don’t know where this project is at.

I hope the information is useful for you. Thank you.

Laura

4. Alicia Márquez: Good afternoon Laura, first of all, thank you very much and congratulations for your presentation. I would like to ask you why in clinical case number two it was decided to prescribe quetiapine, since it is an antipsychotic and there are no signs that indicate a possible psychosis. Thank you in advance.

Thank you very much for your comment Alicia, I’m glad you found the talk interesting.

What I wanted to convey to you with the last case was that not all cognitive impairment in patients with DS is due to Alzheimer’s disease, the importance of making a good diagnosis makes a difference and that neuropsychology can help us in this process. Having said this, the case I presented to you has a history of longstanding behavioral alteration (with aggression, challenging behaviors, etc.), but I did not give you all the information so as not to expand on it. This patient is also being followed up with psychiatry and many different strategies have been tried. Quetiapine is a drug that has been shown to improve behavioral disturbances in patients with dementia and, in general, from our experience, we have seen that people with DS (with and without dementia) also respond well to this drug.

I hope this answers your question. Thank you!

Laura

5. Valeria Patti Gelabert Excellent talk, thank you very much! I have a question regarding re-evaluation, how often is the patient evaluated? What are the scores for dementia type decline in the CAMCOG-DS test? Do you work between evaluations with cognitive stimulation? Can the evaluation and re-evaluation have a learning effect? Thank you very much!

Hi, Valeria! Thanks for your comment.

Your questions are very interesting, I’m going to answer in parts.

The health plan we have developed recommends an annual follow-up as long as the person is healthy, but when a dementia patient is diagnosed, the follow-up is adapted to each case. The general recommendation is not to repeat a neuropsychological exploration if a minimum of 6 months have not passed, so if the patient requires more follow-up we make the visits only with neurology and reserve the neuropsychological exploration for 6 and/or 12 months.
The problem with this population is that there are no cut-off points as in the general population and there are no rigorous studies that determine which drop in the test is really significant, hence the need to carry out longitudinal evaluations and compare each person with their baseline performance. To be able to do this, it is essential that the patient’s baseline examination be at a time in his or her life when there is no suspicion of dementia or cognitive impairment from other causes.

Right now we have a paper under review and pending publication in relation to the CAMCOG and CRT cut-off points that you may find useful and we are also analyzing the data in order to determine when a decline in test scores is significant or not, hopefully they will be available soon.

Regarding your question about cognitive stimulation, the structure of the unit does not allow us to perform cognitive stimulation interventions as part of our care work, but we always recommend that people stay active (physically and cognitively) and when we detect a person with a low level of stimulation in their environment we activate the social work route to provide resources to that person.
Nor is there anything published in this sense that demonstrates the learning effect in this population, although I think there may be and especially in the mildest cases. The CRT has 3 versions to be able to alternate the sheets of learning stimuli and it is a good option to avoid this type of effect

I hope the information is useful to you. Thanks!

Laura

6. Lucía Elices García. When you begin to observe cognitive and behavioural changes in people with DS that give rise to suspicions of possible dementia and you finally end up corroborating the diagnosis with a neuropsychological evaluation and subsequent neuroimaging techniques, does the process of intervention with that person thereafter change? Do you start a new intervention programme with that person or do you increase the number of cognitive stimulation sessions, for example? And on the other hand, do you usually also start with some pharmacological treatment for dementias? Thank you.

Hi, Lucia, thanks for your question. As you know, unfortunately Alzheimer’s disease has no cure and currently the treatments given are to slow down the course of the disease and for the comorbid symptomatology that can appear. When a diagnosis of dementia is made in a person with DS the same treatment is given as in the general population with IACES (acetylcholinesterase inhibitors) and in addition, throughout the course of the disease drugs can be added to attack specific symptoms such as sleep disturbances or other behavioural disorders. In these cases, the medical follow-up is usually six months instead of one year or even every three months depending on the needs of each person. Care must be taken with certain drugs such as Memantine because it is known to lower the epileptic threshold and this population has a high risk of developing dementia-related seizures. I leave you the reference of a study on dementia with IACES in DS in case you are interested:

Nicole Eady*, Rory Sheehan*, Khadija Rantell, Amanda Sinai, Jane Bernal, Ingrid Bohnen, Simon Bonell, Ken Courtenay, Karen Dodd, Dina Gazizova, Angela Hassiotis, Richard Hillier, Judith McBrien, Kamalika Mukherji, Asim Naeem, Natalia Perez-Achiaga, Vijaya Sharma, David Thomas, Zuzana Walker, Jane McCarthy, and André Impact of cholinesterase inhibitors or memantine on survival in adults with Down syndrome and dementia: clinical cohort study. The British Journal of Psychiatry (2018) 212, 155-160. doi: 10.1192/bjp.2017.21

In addition to this, from the unit we always offer an orientation visit to the families who have just received the news. These visits are made by a neuropsychologist and a social worker and they give them information about the disease and available resources. They are also offered participation in groups of families who are in the same situation as them and in which they can share experiences and feelings.

As for your question about cognitive stimulation, the structure of the unit does not allow us to carry out cognitive stimulation interventions as part of our care work, but we always recommend that people stay active (physically and cognitively) and when we detect a person with a low level of stimulation in their environment we activate the path with social work to offer resources to that person. My recommendation is to adapt the level of cognitive demands as the disease progresses to avoid frustration and also to be able to maximize the capabilities that are still preserved, in addition to trying to make the intervention always as ecological as possible.

I hope the information is useful to you. Thanks!

Laura

7. Eva María Cubero: I would like to ask you the following questions:

Do the neurobiological aspects you have mentioned occur in all people with DS, regardless of whether it is trisomy, translocation or mosaicism?
What tests are used to evaluate the degree of disability in DS?
Are any of the tests you mentioned for neuropsychological assessment freely available?
Is there an Alzheimer’s-Downtown center/unit in Madrid that works the same way as you do?

Great presentation, thanks.

Hi Eva, thanks for your comment.

Neurobiological alterations occur in all people with DS because the syndrome is the same for all three causes, but they can be more or less serious. In general, the mosaics are less affected.

We use the K-BIT because it is a relatively quick test (approximately 20 minutes) and because it is the one being used by other groups at the European level. The main problem with this test is that the Spanish version is very loaded with verbal language and this is precisely one of the cognitive domains most affected in DS, thus penalizing them. However, as it also includes the matrix part you can orient yourself better with that score. Depending on the time you have to visit each patient and their level you could use other tests, I list some that are recommended in different manuals:

PEABODY Picture Vocabulary Test (PPVT-III).
Spanish clinical evaluation of language fundamentals (CELF Preschool 2).
Clinical evaluation of language fundamentals (CELF-4 Spanish).
Illinois Test of Psycholinguistic Aptitude (ITPA).
Kaufman Assessment Battery for Children (K-ABC).
Kaufman Brief Intelligence Test (K-BIT).
Revised Leiter International Manipulative Scale Battery (LEITER-3).
Non verbal intelligence test-2 (TONI-2).
Wechsler non verbal scale of intellectual aptitude (WNV).
Matrices. General intelligence test.

You might be able to find some version of the tests on the Internet, but the CAMDEX for example is from TEA. Finally, as far as I know, we are the only unit with this type of protocol, however I know that in Madrid there are people working in this field, you can check for example, the page of Down Madrid..

I hope the information is useful to you. Greetings!

Laura

8. Olga Gelonch Rosinach: Hello, congratulations on the fantastic initiative of #YoMeQuedoEnCasa learning with #NeuronUPAcademy. Laura Videla’s lecture was fantastic. I would like to ask her if she could pass the Cued Recall Test for people with intellectual disabilities. To know if there is a Spanish validation/normalization of this test, and also to ask her about the Modified Cued Recall Test. Do you use this modified test in your unit? What differences are there? Thank you very much.

Hi Olga, thank you very much for your comment! Buschke’s Cued Recall Test (1984) is the one used in the general population and consists of 16 written stimuli. The modified version for intellectual disability has 12 visual stimuli, so we can evaluate the memory without the intervention of lesctowriting. Apart from this, the dynamics of the test is practically the same: the semantic clue is given and the 3 tests are done, first free memory and then facilitated memory. The test is not validated or standardized in the Spanish population (we do not have scales for any test for intellectual disability, hence the importance of longitudinal assessments), but it is used a lot and I find it very useful, I certainly recommend using it to assess cognitive impairment in this population. In case you are interested, right now we have a review article with indicative cut-off points for this test, we hope it will be published soon and that it will be useful to all of us for clinical practice. Finally I leave you with some references to Devenny’s mCRT, this author has worked a lot on the subject and one from my colleague Bessy Benejam

Devenny, D. A., Zimmerli, E. J., Kittler, P., &Krinsky-McHale, S. J. (2002). Cued recall in early-stage dementia in adults with Down’s syndrome. Journal of Intellectual Disability Research, 46(6), 472-483. http://dx.doi.org/10.1046/j.1365-2788.2002.00417.x
Devenny, D. A., & Krinsky-McHale, S. J. (2009).The Cued Recall Test: Detection of memory impairment. In V. Prasher (Ed.), Neuropsychological assessments of dementia in Down syndrome and intellectual disabilities (pp. 143-161). London, UK: Springer-Verlag. http://dx.doi.org/10.1007/978-1-84800-249-4_9
Benejam B, Fortea J, Molina-López R, Videla S (2015). Patterns of Performance on the Modified Cued Recall Test in Spanish Adults With Down Syndrome With and Without Dementia. Am J Intellect Dev Disabil. 2015 Nov;120(6):481-9. doi: 10.1352/1944-7558-120.6.481.

I hope you find the information useful. Greetings!

Laura

9. Sandra Peña Díaz

First of all, thank you very much for this webinar which was very interesting. I would like you to convey to Laura Videla the following question:

In the case of cognitive evaluation for people with Down syndrome, what protocol do you apply with people who are absent or have difficulties in communication? For example, in cases of selective mutism and in cases of very severe intellectual disability. For example, people with Down syndrome and autism. Thank you very much.

Hi, Sandra:

Unfortunately, the landscape for exploring the cognition of patients with more severe intellectual disabilities is complicated. I personally try to always pass the CAMDEX and even the CRT, sometimes they are useless, but other times you are surprised by the communicative abilities of these patients even if they do not have a very extensive language. If you get through, the scores you get will be low, but they can still be helpful if you follow up longitudinally. Another alternative is to use simple tests and battery subtests that you think can be adapted to that patient’s level (for example CAMCOG praxias, some Test Barcelona subtests, children’s tests or understanding of Haxby commands). Although we do not use it, there is also the SIB – Severe Impairment Batery – ( Saxton et al., 1993) which is a test for severe ISDs with 40 items and takes about 20 minutes to pass.

I also know that TEA was waiting to validate a computerized test for severe ISDs called ECDI-SE, but I don’t know where this project is at.

I hope the information is useful for you. Greetings!

Laura

10. María García Alaman

Thank you for offering us these interesting information pills and making them so accessible to everyone. I have several questions for Laura Videla:

In your EA and Down syndrome unit, could you value people from outside your community? Is it open to people from other communities?
Do you recommend any pages or bibliography on this subject?
Do you know of any congress or conference on this subject that will be held soon or that has been held and that can be downloaded?

Thanks again

Hi Maria, thanks for your comment.

Regarding your first question, the health plan covered by the Generalitat is only for people with DS over 18 years of age in Catalonia, but we can evaluate people from outside, in fact there are already users from other communities come to follow up and even some from South America, only that these visits are not covered by the Generalitat. You can contact us at the telephone number of the Alzheimer-Down Unit (93.553.79.41) and we will give you more information if you need it.

As for the bibliography, fortunately, there is more and more information on the subject. On an international and research level, I recommend that you visit the T21RS website (https://www.t21rs.org/), which is a non-profit scientific organization made up of researchers in the field. They organize a congress every two years and just last year we held it in Barcelona, the next one is in 2021 in California. In Spain, one person who has a lot of information freely available on the web is Dr. Flórez from DownCantabria, he is a great expert and gives very clear and rigorous explanations on a wide variety of topics. If what you need is something more medical/clinical specific to dementia in DS you can download the Spanish Society of Neurology’s 2018 “Official Guide to Clinical Practice in Dementia” which includes a specific chapter on DI. Apart from this, it is always useful to browse Pubmed, you will see that there is a growing interest in the subject and that in recent years many scientific articles have been published worldwide.

I hope you find the information useful. Best regards!

Laura

Betina Martínez, psychologist of the Down Vigo organization: First of all, we want to thank you for making yourself available to us in yesterday’s webinar. I would like to take this opportunity to ask you some questions.
In our Association and in coordination with Down Galicia through the Commission on Aging composed of professionals from all Down Galicia entities, we apply a protocol for the early detection of aging in people with DS. We begin the longitudinal study at age 20.
We applied Camdex Ds (complete), CRT and an internal test initially designed for those people to whom neither of the two previous tests could be applied.
With respect to CAMDEX Ds, we always have some controversy about when to consider a decrease in the total score significant. You commented in the webinar that around 2 – 3 points should be considered as a factor to be taken into account. Or does this depend on other factors, such as IQ? With a decrease of 2 – 3 points is it considered that we should apply the test again after 6 months in all cases?
Likewise, we have doubts about when to refer, since, although in the longitudinal study the deterioration is clear, in the end the referral can be extended in time (application at 6 months, caregiver interview, differential diagnosis with timely tests, new application at 6 months…). Is there a clear protocol in this respect? or are there any bibliographical references that we can consult?
And the family or caregiver interview, how often should it be applied? In Down Vigo, we apply it at the beginning of the longitdinal study and it is applied again in case of suspected deterioration or significant changes (difference of 6 points with respect to the initial total score). This means that several years may pass from one interview to another, but we understand that by comparing both interviews, changes can be observed in a very noticeable way. Is there a protocol regarding the frequency of passage?
With respect to the CRT, you commented yesterday that the clue for the facilitated memory was given at the beginning of the test, when the figures were memorized. In our case, we were not doing it in this way, but we were providing the track throughout the test and only for those words that had not managed to evoke in the free memory. Is there any manual or protocol? And when we passed it for the first time, what would be the reference score to take into account? And for the subsequent times, when is it considered a significant change?
Finally, we do not apply the dog and cat test, to contemplate the executive functions, but since it is visual, quick and simple, I would like to know a little bit the same, if there is any reference score to start from, and when are considered significant changes?
I know that there are many questions and I am very grateful for your time.
Greetings and thank you!

Hi, Betina, thanks for your comments and questions. First of all, I wanted to tell you that it is lucky that you have been able to organize a plan for early detection of cognitive impairment because it is a very important task in this population and not all centers can afford it. Having said that, I will try to answer your questions in parts:

Regarding the 2-3 point drop of the CAMCOG, I think there has been some misunderstanding since such a small variation in the test can hardly be considered significant, in fact, CAMCOG scores are not uncommon to fluctuate slightly over time and are usually less stable than those of the CRT. I personally would not repeat a scan for a 2-3 point drop in CAMCOG if there is nothing else about the case that catches my eye. The problem we have with these tests in the DI world is that there are no scales or cut points, hence the need for longitudinal evaluations. In case you are interested, right now we have a review article with indicative cut-off points for these two tests, we hope it will be published soon and that it will be useful to all of us for clinical practice.
Unfortunately there are no specific protocols for these people when cognitive changes are detected. Delays in testing are often dependent on individual hospitals and health professionals. At the beginning of our project we had the same problem as you, the diagnosis and treatment was very delayed and sometimes it was not even done because the doctor attending the patient did not consider it appropriate to carry out diagnostic tests. We have been able to solve this because of the collaboration with the Hospital de Sant Pau and because within the team we have neurologists and nurses who can speed up some steps, but I think you are doing a good job. The only thing I can think of is that if in any case you consider that there is a clear deterioration in the basal visit, you should start all the procedures, even if you do not have a longitudinal evaluation after 6 months. This is where our clinical criteria comes into play, which is just as important or even more important than the test results, in this case you had to justify it very well in the report.
In general, in visits to memory clinics for the general population, a companion is always included in the visit, but as I mentioned, there are no official protocols for this pathology in the population with DS. We always carry out an interview with the carers, on all visits, as most of the time they provide very relevant information. It is also true that the structure of the visits is very variable in each centre. My advice is that if you cannot carry out a complete routine anamnesis at each visit, include some quantitative scales that the relatives can respond to in a self-administered way.
The administration of the CRT is exactly the same as any other clueless memory test. In the learning phase you have to give the semantic clue to the patient so that he/she can generate the association between the word and the category. Later, when all the stimuli have been learned, you move on to the test phase and perform the first test: first you evoke the words freely and without help and then you give the semantic clue of those words you have not remembered. This process is repeated in the two subsequent tests.

As I told you in the first question, as with CAMCOG, there are no cut-off points or scales (hopefully the article will be published soon and it will help)

Here is a reference to an article you may find interesting:

Devenny, D. A., Zimmerli, E. J., Kittler, P., &Krinsky-McHale, S. J. (2002). Cued recall in early-stage dementia in adults with Down’s syndrome. Journal of Intellectual Disability Research, 46(6), 472-483. http://dx.doi.org/10.1046/j.1365-2788.2002.00417.x

Finally, as I said, there are no scales or standards for people with intellectual disabilities, so the dog and cat test does not have them either.

I hope you find the information useful. Greetings!

Laura

If you want to see the paper in deferred it is available exclusively at NeuronUP

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