Elucidate the etiological factors of disabilities.

Write a note on hearing and speech

impairment and cerebral palsy.

The International Classification of Functioning, Disability and Health defines

‘disability’ as ‘any restriction of lack (resulting from an impairment) of ability to perform an
activity in the manner or within the range considered normal for a human being’ (ICIDH,
1980). The International Classification of Function, Disability and Health understands
functioning and disability as a dynamic interaction between health conditions and contextual
factors, both personal and environmental (ICF, 2001). Persons with disabilities are those who
suffer any kind of bodily impairment that interferes with the normal functioning of one or
more of their organs or sense. Physical disability is a deviation from the socially valued
bodily characteristics of an individual in a given society. In strictly medical terms, a physical
handicap refers to human limitations, irrespective of whether disability is attributable to
disease, injury or inheritance and it leads to a limitation of physical function, whether
locomotor, sensory or affecting special organs (Murickan & Kareparampil, 1995).

Etiological Factors of Disability

Pre-natal (Murickan & Kareparampil, 1995)

Maternal Malnourishment. The first eight weeks of pregnancy are crucial in terms
of the structural development of the embryo. If maternal starvation takes place during the
earlier period of gestation, the embryo dies, but if it occurs at a later stage, malformation
takes place. If certain nutrients like vitamins and minerals are omitted from the diet of the
expectant mother, congenital defects may appear. For eg. Lack of vitamin A in the diet may
result in defective eyes.

Maternal Infection. Rubella and German measles in the first two months of
pregnancy may cause congenital defects such as deaf-mutism, cataract, microcephalia, etc.

The Rh Factor. Parent Rh blood incompatibility is also responsible for congenital

disorders.

Diseases. It has been found that among the offspring of diabetic mother, there is a
higher incidence of congenital defects like club foot, claw hand, missing fingers, etc.

X Rays. Radiation has an adverse effect on the embryonic growth and can lead to
microcephalia and disorders of the central nervous system in the offspring.
 Chemical Agents. Certain congenital deformities are also due to erroneous use of
certain high potency chemical agents or ingredients.

Glandular Disorder of the Mother. Hypothyroidism in the pregnant woman is

associated with cretinism in the infant.

Mechanical Factors. A few congenital defects can be traced to abnormal pressure or

other mechanical factors. The abnormal position of the foetus may result in club foot, club
hand or dislocation of wrists and knees.

Natal and Post-Natal (Murickan & Kareparampil, 1995)

Brain Injuries at Birth. Many of the brain disabilities result from birth injuries.
Premature birth, caesarean birth, long and difficult labour, precipitate birth, haemorrhage,
improper use of forceps and of anaesthetics and drugs may result in severe brain injuries.
Difficult labour in Eastern countries due to ignorance and incompetence of midwives may
account for cerebral palsy and other brain injuries.

Pathological Conditions and Diseases. Infectious diseases like whooping cough,

measles, scarlet fever, meningitis, tuberculosis of bones and joints are likely to result in
physical disabilities.

Accidents. Disability due to industrial accidents and traffic accidents are on the rise
with the increase in expansion of industries and use of automobiles.

Nutrition Deficiencies. Nutritional deficiency leads to low resistance against diseases

which may ultimately result in disability.

Other Causes. Poverty, Illiteracy, shortage of medical personnel, want of requisite

institutions, traditional fatalism are some other causes contributing to physical disability.

Chromosomal Aberrations

Chromosomal alterations lead to genetic instability, which is a major cause of various

genetic disorders such as Down syndrome, Triple X syndrome, Chronic myeloid leukemia,
Burkitt lymphoma, and many more. These chromosomal alterations (loss or gain) in complete
set of chromosome may be lethal, as many give rise to genetic disorders. Consequently,
chromosomal abnormality is also responsible for failure of gametogenesis, fertilization, birth
defects, deformities in live-born infants and mental retardations. Depending on the size,
location, and timing, structural changes could lead to birth defects, syndromes or even cancer.
 Chromosomal abnormalities are generated in chromosome due to alteration in genetic
materials through loss, gain or rearrangement of particular segments. It can be divided into
two main categories: (1) numeric chromosomal aberration (CA) and (2) structural CA.

In this type of CA, increase or decrease in the number of chromosomes is seen.

Numeric CA exists in two conditions: (1) euploidy and (2) aneuploidy. Euploidy is a
condition of a cell, tissue, or organism in which changes in chromosome number can occur
by addition of one or more complete sets of chromosomes. Aneuploidy is the presence of an
abnormal number of chromosome in cells either in the autosomes or the sex chromosomes.
Mutagens, carcinogens, X-rays, and also chemicals such as colchicines can produce
aneuploidy.

Structural chromosomal abnormalities occur when there is a change in the parts of a

chromosome. It involves the rearrangement through gain, loss, and reallocation of
chromosomal segment. This left one segment with too much or other segment with too little
genetic material. These chromosome abnormalities lead to some birth defects. There are four
major types of aberration: inversion, translocation, deletion and duplication,. Inversion occurs
when a segment of a chromosome is clipped off, inverted around 180 degrees and reallocated
into the same chromosome. When two nonhomologous (chromosomes in different pairs)
chromosomes exchange their parts, the resulting chromosomal rearrangements are
translocation. A deletion is the loss of a segment of a chromosome. Jacobsen syndrome is
caused by deletion that occurs on long (q) arm of chromosome 11. People affected with this
disease have delayed development of speech and motor skills, cognitive impairment, learning
difficulties and also have distinctive facial features such as small and low-set ears, wide eyes
with droopy eyelids, and also have a large head. Duplication is the occurrence of a segment
of chromosomes in two or more copies per genome. Charcot–Marie–Tooth disease is one of
the most common congenital neurological disorders that is caused by the duplication of the
gene on chromosome 17. A typical symptom of this disease includes weakness in legs, ankle
and feet, loss of muscle bulk, curved toes; and high foot arches, which may result in foot drop
(Jain et al, 2018).

Genetic errors

Several inherited “errors of metabolism” can cause brain damage or impair brain
development. “Errors of metabolism” refer to genetic abnormalities in which the recipe for a
particular enzyme is in error, so the enzyme cannot be synthesized. If the enzyme is a critical
one, the results can be very serious. There are at least a hundred different inherited metabolic
disorders that can affect the development of the brain. The most common and best-known is
called phenylketonuria (PKU). This disease is caused by an inherited lack of an enzyme that
converts phenylalanine (an amino acid) into tyrosine (another amino acid). It can result in
severe mental retardation, with an average IQ of approximately 20 by six years of age. Tay-
Sachs disease, which occurs mainly in children of Eastern European Jewish descent, causes
the brain to swell and damage itself against the inside of the skull and against the folds of the
dura mater that encase it. The neurological symptoms begin by four months of age and
include an exaggerated startle response to sounds, listlessness, irritability, spasticity, seizures,
dementia, and finally death (Carlson, 2014).

Hearing Impairment

A person who is considered to be ‘deaf’ is one whose hearing is impaired beyond

repair. The hearing loss of such people is above 75 decibels. ‘Deafness’ is different from
‘hard-of-hearing’ in that those who are classified as the latter are those who become hard of
hearing through accident or disease but are able to hear a little (Murickan & Kareparampil,
1995).

Based on the degree of hearing loss measured in terms of decibels, deafness can be classified
as follows:

Class I. Mild losses (20 to 30 db). People with hearing losses in this range learn to
speak by ear in the ordinary developmental way and are borderline between hard of herning
and the normal.

Class II. Marginal losses (30-40 db). People with such losses usually have some
difficulty in hearing speech at a distance of more than a few feet and in following group
conversation. Speech can be learned by ear.

Class III. Moderate losses (40 to 60 db). With amplification of sound and the
assistance of vision, people with hearing in this range can learn speech aurally.

Class IV. Severe losses (70-75 db.) People with hearing losses in this range will not
acquire speech without use of specialized techniques. Such people are considered to be
“educationally deaf”. They are borderline between the ‘hard-of-hearing’ and ‘deaf’.
 Class V. Profound losses (greater than 75db). People with hearing in this range
seldom learn language by ear alone, even with maximum amplification of sound.

People in Classes I, II, and III are considered to be hard of hearing while those in IV
and V are considered deaf (Murickan & Kareparampil, 1995).

It is important to define deafness in relation to the interaction of various variables

such as the degree of loss, age of onset of deafness, method of communication used by the
individual as well as the person’s attitude toward their deafness. It is important to consider
the interaction of these variables because different combinations of them will result in unique
experiences and difficulties. For instance, two individuals with exactly the same degree of
hearing loss but different age of onset will differ profoundly in such factors as educational
achievement, language development and speech development. Additionally, the methods of
communication used by the individual such as use of speech, signs, finger spelling, etc has
implications for the vocational guidance and adjustment of the individual. Further, the
reaction of the deaf person to their deafness has important implications for their psycho-
social and vocational adjustment (Murickan & Kareparampil, 1995).

Causes of Hearing Impairment (Murickan & Kareparampil, 1995)

Heredity. Otosclerosis, predisposition to early degeneration of the auditory nerve and

anatomical malformations are included in the hereditary factors contributing to hearing
impairment.

Congenital. Virus diseases, notably Rubella in the first trimester of pregnancy, to a

lesser extent, mumps and influenza may cause severe inner-ear impairment. Any severe acute
illness, particularly if accompanied by a high fever is likely to injure the cochlear nerve
endings prenatally.

Acquired. This category of etiological factors includes brain conditions (tumours,

concussion, fracture of the temporal lobe, etc.), general infectious diseases (scarlet fever,
measles, mumps, typhoid, common cold, etc.), infections of the ear, physical agents (trauma,
accident, noise-exposure, surgical interference, etc.), toxic agents (aspirin, quinine,
neomycin, etc.), advancing age and other miscellaneous factors (hysteria, malingering,
psychogenic, functional).

Speech Impairment (Murickan & Kareparampil, 1995)

 Speech is considered to be defective when the manner of speaking interferes with
communication, when the person’s manner of speaking distracts attention from what is said
or when speech is such that the speaker is unduly self-conscious or apprehensive about their
own way of speaking. Specifically, speech may be considered defective if it is characterised
by any of the following:

1. It is not readily audible.

2. It is not readily intelligible.
3. It is vocally unpleasant.
4. It is visibly unpleasant.
5. It is laboured in production or lacking in conventional rhythm and stress.
6. It is linguistically deficient.
7. It is inappropriate to the individual in terms of age and physical development.
8. The speaker responds to their own speech as if one or more of the above were present.

Speech defects are commonly divided into four major types:

1. Defects of articulation (Sound production).

2. Defects of phonation (Voice production).
3. Defects of rhythm (Stuttering and cluttering).
4. Language dysfunctions (Delayed speech and aphasia).

Causes of Speech Impairment

Speech defects are caused by a variety of organic and functional (social and
psychological) factors. Organic causes include cleft palate, maldevelopment of other parts of
the mouth and jaw, dental irregularities, muscular paralysis of the larynx, brain damage and
nasal obstruction. Functional causes may include failure to learn adequate speech, fixations,
regressive speech patterns, personality and emotional disturbances. Most speech defects have
both functional and organic components.

Cerebral Palsy

Spastic paralysis or cerebral palsy was first described by Little in 1843. It has been
defined as ‘a motor defect present or appearing soon after birth and dependant on
pathological abnormalities in the brain’. It is any abnormal alteration of movement or motor
function arising from defect, injury, or disease of the nervous tissues contained in the cranial
cavity. ‘Cerebral’ means anything in the brain whereas ‘palsy’ indicates lack of control of
muscles or joints. ‘Cerebral Palsy’ is a term used to designate any paralysis, weakness,
incoordination or functional aberration or the motor system resulting from brain pathology. It
may not only represent a motor handicap but may also include sensory and mental deviations.
Visual, auditory and speech defects, and epilepsy are some of the other accompaniments of
this disorder (Murickan & Kareparampil, 1995).

Types of Cerebral Palsy

Cerebral palsy may be classified according to various criteria such as ( 1 ) the

anatomic site of the brain lesion; (2) the qualitative nature of the clinical symptom present,
whether spasticity, athetosis, rigidity, etc.; (3) the topographical involvement of the
extremities; (4) the degree of tonicity; (5) the severity of involvement; and (6) the etiology
(Perlstein, 1952). Following is the classification according to the observable clinical
symptoms:

Spastic. These are characterized by the clinical signs attributed to "upper motor
neurone" involvement. Specifically, there is present a stretch reflex in the involved muscle.
This stretch reflex is characterized by an increased tendency of the muscle to contract when it
is passively stretched rapidly. This reflex is not present when the muscle is passively
stretched slowly (Perlstein, 1952).

Dyskinesias. In this group the characteristic clinical finding is an abnormal amount

and type of motion. There is marked abnormality in spontaneous motion, which may be
totally increased, totally decreased, or aberrant in nature. The two main factors that are
responsible for these abnormalities of motion are (1) the tendency for motions to be
uncontrollable, involuntary, and incoordinate and (2) the tendency for various degrees of
tension or rigidity to occur during the performance of these motions. As a result, bizarre
patterns of motion may appear, some of them rapid and jerky, some slow and worm-like, and
some extremely slow and hypertonic (Perlstein, 1952).

Ataxic. The outstanding symptom in patients with this condition is a disturbance in

sense of balance and equilibrium (Perlstein, 1952).

Causes of Cerebral Palsy (Murickan & Kareparampil, 1995)

Ante-natal factors account for 30% of the cases of cerebral palsy. Ante-natal factors
include intra-cerebral haemorrhage of the foetus, maternal and foetal anoxia, parental Rh
incompatibility infection of the mother during pregnancy with rubella or syphilis, maternal
diabetes and maternal gonadal irradiation. Natal factors including oxygen deficiency,
haemorrhage or precipitate birth account for 60% of the cases. Post-natal factors including
infections like meningitis or encephalitis, head-injury due to accidents, drugs, neoplasms and
vascular diseases account for 10% of the cases.

References

Carlson, N. R. (2014). Physiology of behavior. Harlow: Pearson.

Jain, A. K., Singh, D., Dubey, K., Maurya, R., & Pandey, A. K. (2018). Chromosomal
Aberrations. Mutagenicity: Assays and Applications, 69–92. doi:10.1016/b978-0-12-
809252-1.00004-3
Murickan S.J. & Kareparampil, G. (1995). Persons with disabilities in society. Trivandrum:
Kerala Federation of the Blind.
Peristen, M. A. (1952). Infantile cerebral palsy: Classification and clinical correlations.
Journal of the American Medical Association, 149(1), 30-34.