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Table of Contents

Multiple Disabilities, Syndromes

Multiple Disabilities

The coincidence of several impairments is called multiple disability and often weighs more heavily for the affected person than the sum of the individual disabilities.

Table 1 shows, for the three most common primary disabilities (mobility, vision, and hearing impairment), the probability of occurrence of additional functional limitations. The numbers indicate how many of 1000 persons with a given primary disability are affected by one of the selected additional limitations.

Of 1,000 individuals with a disability ...... are additionally limited at/by
... of mobility ...... of vision ...... of hearing ...
270150170Heart disease

Table 1: Occurrence of multiple disabilities [1].


A syndrome[1] is understood as the coincidence of several signs (symptoms) that are characteristic of a certain clinical picture. The cause of the disease (etiology) is usually uniform, but the course of the disease (pathogenesis) is unknown.

  1. Down syndrome
    Down syndrome[2] (also trisomy 21 or Langdon-Down disease)[3] results from a chromosomal disorder in which an extra third chromosome 21 (hence trisomy 21)[4] appears in the body's cells at fertilization or one of the subsequent cell divisions and is passed on with each subsequent cell division from then on[5]. Down syndrome leads to maldevelopment of almost all tissues and organs of the maturing organism. Two types of Down syndrome are distinguished:

    • Free (complete) trisomy 21
      The additional chromosome 21 already exists as 24. chromosome in one of the germ cells and is therefore present as a free third chromosome 21 in all somatic cells (Figure 1).

    • Mosaic Down Syndrome
      Sperm and egg cells contain the correct number of 23 chromosomes. The chromosomal error does not occur until one of the first cell divisions. Therefore, there are cells with both 46 and 47 chromosomes. This form occurs in about 1% of children with Down syndrome (Figure 2).

    Chromosome sharing in Down syndrome (complete trisomy 21).

    Figure 1: Chromosome sharing in Down syndrome (complete trisomy 21).

    Chromosome transfer in mosaic down syndrome. The cell shown in white with 45 chromosomes is not viable and dies.

    Figure 2: Chromosome transfer in mosaic down syndrome. The cell shown in white with 45 chromosomes is not viable and dies [9].

    Apart from deformities and changes in habitus, the following symptoms are characteristic of Down syndrome:

    • Mental retardation of varying degrees.
    • Speech disorder (high palate, large tongue, malocclusion of teeth).
    • Muscle hypotonia.
  2. Parkinson's syndrome
    Parkinson's syndrome[6] is the most common neurological disorder of advanced age, predominantly affecting men. It is an extrapyramidal syndrome due to degeneration of neurons in the midbrain (substantia nigra) [2].

    The symptoms associated with Parkinson's syndrome are primarily:

    • Silent and monotone speech
    • Slowing and shortening of movements and movement disorders (slow, shuffling gait, small handwriting, tendency to fall)
    • Stiffness of the muscles
    • Resting tremor (tremor of muscles at rest with 4 to 6 movements per second). Tremor stops during voluntary movements, so handwriting is not tremulous.
  3. Gregg syndrome
    Gregg syndrome (rubella embryopathy, embryopathia rubeolosa), malformation syndrome following rubella infection of the mother during the first three months of pregnancy [2]. The anomalies that occur depend on the timing of rubella infection (Table 2).

    Pregnancy monthFocus of abnormalitiesOccurring symptoms
    1Eyescongenital cataract (Cataracta congenita)
    facultative glaucoma (glaucoma)
    small eyes (microphthalmia)
    back of the eye changes (pseudo-RP)
    2Heartheart septal defects
    CNSlow brain volume (microcephaly)
    retardation, epilepsy
    motion disorders
    3internal earsensorineural hearing loss

    Table 2: Abnormalities in Gregg syndrome [2].

  4. Rett syndrome (RS)
    Rett syndrome[7] is a disorder so far observed only in girls, probably inherited in an X-linked dominant manner, in the course of which there are brain atrophy (atrophy of neural tissue in the brain) as well as other changes in the brain. Manifestation occurs between 6th month of life and 4th year of life. The effects are:

    • Epilepsy
    • Delays in growth
    • Loss of previously acquired skills
    • Stereotyped hand movements (washing, kneading)
    • Gait disturbances (wide-legged, stiff)
    • Apraxia (also affects speech organs and eye movements)
    • Loss of verbal communication
  5. Usher syndrome
    Usher syndrome is an autosomal recessive inherited disorder with the main symptoms:

    • Progressive hearing loss in childhood and adolescence.
    • Retinopathia pigmentosa (retinitis pigmentosa), occurring years later
    • Failure of the vestibular nerve (part of the vestibulocochlear nerve = VIII. Cranial nerve, which innervates the vestibular system).
    • Epileptic seizures (possible)

    Usher syndrome is a major cause of deaf-blindness.

  6. Persistent vegetative state (PVS) and locked-in syndrome
    Vigilent coma (apallic syndrome, coma vigile, persistent vegetative state – PVS) refers to a clinical condition in which the patient is in a complete loss of perception of him/herself and his/her environment. The autonomic functions of the hypothalamus and brainstem are fully or partially preserved. An EEG is present and normal in the further course. However, visual stimulation lacks the usual blocking of alpha waves. Patients exhibit a natural sleep-wake cycle. Nevertheless, there is no evidence of reproducible goal-directed or volitional behavior in response to visual, tactile, auditory, or noxious stimuli [3].

    Vigilent coma is clearly distinguishable from related conditions such as locked-in syndrome, coma, brain death, or severe dementia (see also the compilation in Table 3):

    • Coma: Deep unconsciousness lasting more than one hour.
    • Brain death: permanent absence of all brain activity, including that of the brain stem.
    • Locked-in syndrome: consciousness and awareness is present but cannot be reciprocated. PET scans show much higher metabolic levels than in PVS.
    • Dementia: Progressive, multidimensional loss of cognitive function. Progression to end-stage PVS is possible.

    Among the causes that can lead to a vigilent coma, a distinction is made between acute causes on the one hand and congenital or degenerative causes on the other [3].

    Acute causes may have a traumatic background (traumatic brain injury, e.g., due to an accident or gunshot wound) or a non-traumatic background (hypoxia due to circulatory arrest or drowning, cerebral apoplexy, meningitis, tumors, or poisoning). The statistical evolution of patients/patients with PVS 12 months after an acute cause is shown in Figure: Model for the production of spoken language. Note that prognoses vary widely between traumatic and nontraumatic triggers as well as between adults and children. Figure: Model for the production of spoken language also shows, for that portion of individuals who awaken from PVS within 1 year, the probability and degree of expected disability [4, 3].

    Prognosis for people with PVS after 12 months; for the proportion regaining consciousness, the degree of disability expected.

    Figure 3: Prognosis for people with PVS after 12 months; for the proportion regaining consciousness, the degree of disability expected is given [9, 10].

    Non-acute causes of a persistent vegetative state include, on the one hand, numerous malformations of the brain such as anencephaly (absence of essential brain parts), microencephaly (small brain), hydranencephaly (remodeling of the cerebrum into a fluid bubble) and congenital hydrocephalus. On the other hand, in adults, conditions such as Alzheimer's disease, Creutzfeldt-Jacob, Huntington's disease, Parkinson's disease, or multi-infarct dementia can result in PVS. In children, gangliosidoses (lipid storage diseases) may be a cause of falling into a persistent vegetative state [3].

    The incidence of PVS is reported very differently, varying from 25 to 60 on 1  million residents. Only the smaller proportion has traumatic causes [5]. It should be noted, however, that a definitive diagnosis is often very difficult and misdiagnosis can account for up to 60% of cases studied [6].

    In locked-in syndrome, patients are conscious but without any ability to move. In the “classic” form, vertical eye movements and blinking are preserved, and can be used for communication purposes with appropriate interfaces. In “total” locked-in syndrome, these movements are also absent and communication is possible – if at all – only via the evaluation of the EEG (Brain Computer Interface).

    Causes for locked-in syndrome are: advanced ALS, brainstem infarction, infarction in the bridge (pons, connection of the two brain hemispheres), bilateral infarction of the internal capsule (capsula interna – deep lying part of the brain), tumors, encephalitis (inflammation of the brain) and craniocerebral trauma [7, 8].


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Use the following information to cite this book.

  • Author: Dr. Wolfgang L. Zagler
  • Title: Rehabilitationstechnik
  • Date: March 1, 2008
  • Location: Vienna, Austria
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  1. Syndrome: from grie. concomitant, accompanying. ↩︎

  2. John L. Down, English physician, 18281896. ↩︎

  3. The former common name “mongolism” is now considered discriminatory and should therefore be avoided. ↩︎

  4. In addition to trisomy 21, other autosomal trisomies involving chromosomes 3, 9, 10, 12, 13, and 18 are known. Genosomal trisomies (XXY and XYY) may occur in the sex chromosomes. ↩︎

  5. that a chomosomal disorder is the cause of Down syndrome was suspected as early as 1930, but proof was not provided until 1959 by Frenchman Jérôme Lejeune. ↩︎

  6. James Parkinson, English surgeon and paleontologist, 17551824. ↩︎

  7. Andreas Rett, Austrian pediatrician. ↩︎

List of Abbreviations

Central Nervous System
Positron emission tomography
Persistent vegetative state
Rett syndrome

List of Figures

  • Figure 1: Chromosome sharing in Down syndrome (complete trisomy 21).

  • Figure 2: Chromosome transfer in mosaic down syndrome. The cell shown in white with 45 chromosomes is not viable and dies [9].

  • Figure 3: Prognosis for people with PVS after 12 months; for the proportion regaining consciousness, the degree of disability expected is given [9, 10].

List of Tables

  • Table 1: Occurrence of multiple disabilities [1].

  • Table 2: Abnormalities in Gregg syndrome [2].

  • Table 3: Persistent vegetative state (PVS) and related conditions [3].

List of Sources