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Dementia and Down Syndrome Carl V Brief Report Dementia and Down Syndrome Carl V. Tyler, Jr, MD, and J. Christopher Shank, MD Cleveland, Ohio Through deinstitutionalization, more adults with over 3 years was attributed to dementia of the Alzhei­ mental retardation are living in the community under mer type. the care of family physicians. Patients with Down syndrome are at high risk for early Alzheimer’s disease. Key words. Dementia; Down syndrome; Alzheimer’s dis­ This case report describes a 43-year-old woman with ease; mental competency; adults. Down syndrome whose progressive functional decline ( / Fam Pract 1996; 42:619-621) According to life expectancy data published by Baird and About 1 year ago, she developed urinary inconti­ Sadovnick,1 60% of individuals born with Down syn­ nence. The parents hired a home health aide to assist in her drome will be alive at age 50 and 25% will be alive at age care. The family could not locate a physician who would 65. Beyond the age of 40, individuals with Down syn­ conduct home visits and her medical care was limited to drome are at increasing risk for the development of a emergency department visits by means of ambulance for dementia clinically and neuropathologically indistin­ such problems as fecal impaction and bronchitis. After guishable from dementia of the Alzheimer type. The fol­ telephoning Down syndrome organizations and review­ lowing case report illustrates many of the typical features ing medical books and articles, the patient’s sister sus of dementia complicating Down syndrome. pected that she was showing signs of Alzheimer’s disease. Three months before hospitalization, the patient suf­ fered her first tonic-clonic seizure. By that time, she no Case Report longer recognized family members. Her parents and fam­ ily had varied opinions regarding her present status and The patient in this case was born in 1952 with Down future needs. Her father, a retired military officer in his syndrome. She suffered no concomitant congenital heart 80s, minimized the severity of his daughter’s functional disease or gastrointestinal tract anomalies and never re­ decline and desired that she remain in their home, irre­ quired hospitalization or surgery. Until 3 years ago, she spective of further deterioration. Her mother and two loved to swim, dine at restaurants with her father, and sisters believed that the emotional stress of continued travel by airplane to the family condominium in Florida. home care was exceeding their capacity and that she re­ Three years ago, her behavior began to change. She quired a move to an extended care facility. refused to climb the several flights of stairs up to the Finally, the week prior to hospitalization, she could family’s Florida condominium. On a subsequent trip to not be coaxed out of bed and refused to swallow any solid Ohio, she refused to traverse the ramp to the aircraft, and food and most liquids. When a home visit was conducted, the family was forced to drive her home by automobile. she appeared dehydrated and delirious. She was admitted She quit swimming and eventually refused to leave her home. to the hospital for intravenous rehydration, evaluation of her sudden refusal to eat and to ambulate, and for evalu­ ation of her progressive global functional deterioration. Submitted, revised, February 19, 1996. Initial laboratory tests included a normal red blood From the Family Practice Residency, Fainncw Health Systems, and the Department count but with mild macrocytosis (mean corpuscular vol­ of Family Medicine, Case Western Reserve University, Cleveland, Ohio. Requests fo r ume 102.2 fl [normal, 80 to 100 fl|); sodium was 153 reprints should be addressed to Carl V. Tyler, ]r, MD, Center for Family Medicine, 18200 Lorain Ave, Cleveland, OH 44111. mmol/L (normal, 141 to 150); thyroid-stimulating hot- © 1996 Appleton & Lange ISSN 0094-3509 hie Journal of Family Practice, Vol. 42, No. 6(Jun), 1996 619 Dementia and Down Syndrome Tyler a n d Shank increased in frequency, requiring gradual increases in her carbamazepine therapy, and myoclonic features have emerged. Thyroid hormone supplementation and paren­ teral vitamin B12 supplementation did not improve her cognitive or behavioral function, macrocytosis, or consti­ pation. She lost an additional 10 pounds in the 7 months following her discharge from the hospital. Though still unable to recognize family or friends, she is less fearful and her chlorpromazine has been discontinued. Discussion Nearly all persons with Down syndrome over the age of 40 manifest neuropathologic changes characteristic of Alz­ heimer’s disease, including neurofibrillary tangles, neu- Figure. A cranial axial computerized tomographic image shows ritic plaques, and neuron cell loss.2 This contrasts with the atrophic changes with associated ventriculomegaly. findings of several prospective, longitudinal studies which suggest that the average onset of clinical dementia is in mono (TSH) 35 rnlU /L (normal, 0.4 to 5.0) with a normal patients in their early 50s.3-5 free-thyroxine index; serum B12 level was 183 pm ol/L(nor- The specific clinical features of dementia are deter­ mal, 166 to 738); and folate was within normal limits. The mined in part by the individual’s premorbid functional admission chest radiograph was interpreted as normal, but status. Lai and Williams4 followed 96 individuals with computerized tomography (CT) of the abdomen 2 days Down syndrome and nontreatable dementia for 8 years. later revealed bilateral lower lobe pulmonary infiltrates and They identified three phases of clinical deterioration. The cholelithiasis. A nuclear medicine biliary scan did not sug­ initial phase of dementia manifested as memory impair­ gest cholecystitis. A CT scan of the brain was interpreted ment, temporal disorientation, and reduced verbal output as indicating atrophic changes with associated ventriculo- in higher functioning individuals, while low-functioning mcgaly without midline shift (Figure). individuals demonstrated apathy, inattention, and de­ The patient was given intravenous fluids and antibi­ creased social interaction. In the middle phase of demen­ otics to treat the pneumonia suggested by infiltrates on tia, decline in activities of daily living (ADLs), deteriora­ CT scan. Thyroid supplementation was gradually intro­ tion of workshop performance, and a slowed shuffling gait duced. were noted. Seizures, mostly tonic-clonic, emerged in Because of her refusal to ambulate and her mild dif­ 84% of the patients with dementia and Down syndrome. fuse hyperreflexia, cervical spine films were obtained. In the final phase, these patients were nonambulatory and They failed to suggest atlantoaxial instability and a neu­ incontinent, with death typically due to infection. The rosurgical consultant did not find evidence of cervical dementia associated with Down syndrome generally fol­ myelopathy. Consultation with a geropsychiatrist con­ lows a rapidly progressive course: death typically occurs firmed the family’s suspicion that the patient was mani­ within 3 to 5 years of the onset of dementia. festing signs of Alzheimer’s type dementia. A witnessed In patients without Down syndrome, Alzheimer’s tonic-clonic seizure with prolonged postictal quadriplegia disease is characterized by a later age of onset and a slower prompted daily anticonvulsant treatment. Modest doses course of decline. Jost and Grossberg6 reported a retro­ of chlorpromazine (25 to 50 mg up to three times daily) spective review of the medical records of 100 randomly seemed to diminish her fearful repetitive verbalizations; selected, autopsy-confirmed Alzheimer’s disease patients for example, “ I want to go home,” “Where’s Sissy?” and enrolled in a university-based Alzheimer’s association “Shut up, you bastard.” As her fear abated, the patient brain bank. In this sample, the average age at diagnosis permitted the staff to improve her hygiene and to provide was age 75 years, 32 months after symptom onset, and the nursing care. Her appetite improved modestly, but she average total disease duration was 5 to 8 years. still refused to leave the bed. She was discharged to a Chicoine et al,7 reporting their experience with an nursing home with community hospice support for both adult Down syndrome clinic, cautioned against prema­ the family and the nursing home staff. turely attributing functional decline in patients with Since admission to the nursing home, the patient has Down syndrome to Alzheimer’s disease. O f 48 patients continued to deteriorate. Her tonic-clonic seizures have presenting with diminished skills, 34 (71%) were diag- 620 The Journal of Family Practice, Vol. 42, No. 6(Jun), 1996 Dementia and Down Syndrome Tvlcr and Shank nosed with depression, 13 (27%) with adjustment reac specific problem behaviors, such as anger, aggression, tion, 12 (25%) with hypothyroidism, 2 (4%) with anxiety, wandering, and sleep disturbance. Published materials by and just 2 (4%) with dementia. Notably, the average age Alzheimer’s Disease and Related Disorders Association13 of patients seen at this clinic was 34 years. In adults with are helpful to patients and physicians in dealing with these Down syndrome, other common conditions that can issues. Concurrent psychiatric disorders, most commonly cause functional decline or worsen the impact of Alzhei­ depression, psychosis and anxiety, may respond to phar­ mer’s disease include: hearing and visual impairment,8 macotherapy. Patients with Down syndrome and demen­ obstructive sleep disorders, vitamin 1112 or folate deficien­ tia also require close surveillance
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