What is a case study that illustrates typical Alzheimer disease (AD) in Down syndrome (DS) progression?

Updated: Nov 13, 2019
  • Author: Norberto Alvarez, MD; Chief Editor: Jasvinder Chawla, MD, MBA  more...
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Answer

Answer

A male born in 1930 was admitted to an institution for individuals with mental retardation in 1939. He died in the institution in 1991, and diagnosis of DS was confirmed by chromosomal analysis. The following is the author's account of disease evolution in this individual, who was observed from disease onset, and demonstrates the complexity of the medical issues involved.

Clinical presentation before the beginning of AD was as follows:

  • Patient had no behavioral problems and was pleasant and congenial

  • Patient followed simple commands and understood simple orders

  • Patient walked independently and also was independent in ADLs

  • Patient consumed a normal diet

  • Patient performed housework and showered well

  • Patient had good leisure skills and an active social program, participated in dances and outdoor trips, and sang with the radio

  • Patient understood that he had to leave the building when a fire alarm sounded

  • Patient's score on the Vineland Adaptive Behavior Scale in 1975, at the age of 45 years, was 4.9 years; this remained the same when he was aged 49 years

The following is a yearly description of the patient’s symptoms as he developed AD:

  • 1981 (51 y) - The patient's first symptoms were disorientation, confusion, and behavior changes; he refused to accept that the program activity in which he was involved was over; he refused to return to his residence; he was found wandering the grounds crying and yelling in a state of confusion

  • 1982 (52 y) - The patient showed increased forgetfulness and had emotional problems and periods of agitation manifested by verbal outbursts and throwing of objects

  • 1983 (53 y) - The patient needed consistent prompting to perform ADLs; he was still capable of showering and changing clothes daily; leisure skills were unchanged; he exhibited 3 incidents of major aggression and agitation; his score on the Vineland Adaptive Behavior Scale decreased to 3 years

  • 1984 (54 y) - The patient demonstrated poor participation in social activities as a consequence of frequent sleeping; ADLs required increased assistance, although he remained independent; a choking episode was observed

  • 1985 (55 y) - Regression steadily continued; disorientation, confusion, wandering, forgetfulness, and sleeping increased; the patient's behavior deteriorated; he would undress in the dining room and at work; ADLs also regressed, and he needed more help though remaining independent; he frequently was found wandering outside his residence and unable to find his way; occasionally, he could not find his bedroom; the score on the Vineland Adaptive Behavior Scale decreased to 2.1 years

  • 1986 (56 y) - The patient exhibited photomyoclonic response; he had myoclonic seizures and difficulty walking; ADLs regressed further; he still could eat and drink but had to be reminded constantly to do so; he was transferred to a safer and more restrictive environment

  • 1987 (57 y) - Generalized tonic-clonic seizures appeared; the patient became aggressive, and his gait deteriorated markedly, though he was still able to walk; he occasionally needed a wheelchair; he fed himself using adaptive equipment; toilet training was scheduled, but a few accidents occurred

  • 1988 (58 y) - The patient became lethargic; inappropriate behavior became frequent; he no longer was able to walk independently or feed himself; he frequently lost sphincter control; he could not tolerate bus rides into the community; he still enjoyed music and expressed pleasure by smiling and laughing

  • 1989 (59 y) - The patient developed aspiration pneumonia; he was totally dependent for ADLs; he required a wheelchair, and his social interaction became very poor; he developed urinary incontinence

  • 1990 (60 y) - The patient suffered from frequent bouts of pneumonia; he no longer was able to swallow and was fed through a naso gastric tube; a feeding tube (percutaneous endoscopic gastronomy) was placed; incontinence necessitated the use of diapers; he had minimal interaction with his surroundings and slept most of the time; occasionally, he conveyed pleasure and displeasure by laughing or crying

  • 1991 (61 y) - The patient showed minimal response to environmental stimulation and slept most of the time


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