You are on page 1of 8

GENETIC AND UNKNOWN FACTORS IN THE ETIOLOGY OF

CEREBRAL PALSY – QUANTITATIVE ANALYSIS OF


DIGITOPALMAR COMPLEX

Miljenko Cvjetičanin
„Such knowledge (Jehovah) is beyond my comprehension, it is
to high for me to reach, Your eyes even saw me as an embryo;
All its parts were written in your book, regarding the days when
they were formed“ Psalm:139:6,16, New World Translation of
the Holy Bible

Cerebal palsy is disorder that occurs as a result of brain demage in developing


and clinically manifest in different forms.
It is the etilogic still incomletely cleared area.
According to the American Academy for Cerebral Palsy, it is defined as any
movement disorder of motor function, resulting from the defect, injury or disease of the brain,
before, during and after delivery (1).
Disease frequency is determined by the number of us to Phelps, 7 cases in
1500 deliveris (2).
Etiology Rusk boils down to the folloving elements (3):
1. defects in development
2. hypoxia and hemorrhage
3. infections, toxins and poison
4. trauma
5. reaction of isoimmunisation
6. biochemical defects of maturation
7. hereditary (genetic) defects
Due to the time at which the damage has occurred it is differentiate (4):
1. prenatal damage (30%)
2. perinatal (60%)
3. postnatal impairment (10%)
The morphological changes of the brain, regardless of etiology, can be reduced to the
terms of circulatory disorders in the sense of anoxy, hypoxia, hemorrhage and edema (5).
According to localisation of pathological anatomical changes can be divided into:
1. Changes to the cerebral hemispheres
2. Changes in basal ganglia
3. Changes in the cerebellum
4. Changes in the brainstem
Besides these, there is a possibility, and mixed forms.
There are three possibilities for the classification of cerebral palsy (6):
1. neuromotor (spasticity, athetosis, rigidity, ataxia, tremor, mixed forms)
2. topographic distribution neurodevelopmental turns (paraplegia-lower limbs,
hemiplegia-an upper and a lower limb on the same side of the body, triplegia-three limbs and
quadriplegia or four affected limbs).
3. classification according to the severity of neurodevelopmental failure (easy,
moderate and difficult situation, with respect to the performance of everyday activities).
With a motor handicap due to damage of the central nervous system, there are
accompanyng others - primary damage, as a consequence of basic lesion or secondary
as a result of the impossibility of acquiring the corresponding knowledge. Eye disorders are

23
approximately one-quarter to half patients (2). In 20% there is a hearing loss, and in the third
epileptic seizures. A common is mental retardation, in about 50% of cases (3).The
accompanying handicaps can be counted sensory weakness, and speech defects in two-thirds
of patients. Additionally occurring behavioral problems and learning.
The diagnosis of cerebral palsy is set on the basis of clinical signs if they are clearly
manifested, and may be set up in the first days of life in the event of major damage to the
central nervous system. But, as cerebral palsy is a dynamic problem which increases the
development, deviation from neurophysiological development called cerebral movement
disorder, a diagnosis is usually at the age of 18 months and beyond, Stojčević-Polovina (7).
Diagnostic deviation from neurophysiological development is set on the basis of the
functional evaluation of patient (8). Based on the analysis of normal child development, where
the focus is on the development of motor skills of observation by trimenons.
Observe the set of ten criteria:
1. a general impression of the child's motor skills
2. position and posture in supination
3. position and posture in pronation
4. position and posture in antigravity
5. assessment of active mobility
6. assessment of passive mobility
7. assessment of muscle tone
8. evaluation of specific reactions
9. score of positional reflexes
10. retardation of development
Each criterion is rated a score of 1 to 5. The maximum number of points is 50 and
indicates normal condition.The minimum number of points is 10 and marks the highest
possible deviation from neurophysiological development. According to range between points,
there easily (40-49), medium heavy (30 to 39), heavy (20 to 29), and a very difficult departure
from neurophysiological development (10-19) points.
To set diagnosis, fundamental is a clinical examination of the child who, if necessary,
supplemented by other auxiliary methods such as electroencephalography, computed
tomography of the brain and down the other, what we need in clarifying the basal disorder, and
the exclusion of any other diseases that occur with clinical manifestations of damage to the
central nervous system.
In search of genetic, early embrional, embrional, early fetal and unknown etiologic
factors in cerebral palsy, it is necessary to take a meticulous history, along with general
information, family and during pregnancy, the birth and immediately after it, which can be
useful for understanding the origin of disorder (9). We will show this with an example where
using one of genetic methods, analysis of dematoglyphics, identifies possible etiological factor
for the state of weakness of the upper extremities, like paralysis brachial plexus, taking
Debendox (Bendectin) because of nausea and nitrofurantoin due to kidney infection in the
early part of pregnancy (10). Naturally there and elaborate procedures in this regard in an
interdisciplinary approach to solving problems (11).
From the general data should take the name of the parents or adoptive parents, date of
birth, their occupations and work they do (contact to harmful agents), and the address. Then
the child name, date of birth, place of birth (town, maternity, at home or other), and address.
For the immediate and extended family history (parents, siblings and grandmother,
grandfather, uncles, aunts) should check whether any disease fras, livers,lungs, heart,
kidneys, epilepsy, hormonal, suicides or other, then if anyone remained unmarried-reason,
whether it is in the women of either spontaneous abortion (expression: "a child left"), as well as
a possible reason.
In addition to genetic and undocumented risk factors, exist prenatal threaten factors to
be checked, heavy social conditions of life, maternal age (younger than 16 or older than 40
years), recurrent disturbances of gestation, still-born child, spontaneous abortion), maternal

24
diseases (especially the first 16 weeks of pregnancy - rubella, cytomegalic virus infection,
toxoplasmosis, polio and other diseases in pregnancy - heart and vascular, kidney, liver,
thyroid, diabetes, sexually transmitted diseases - gonorrhoea, syphilis, AIDS, chlamydia,
mycoplasma and ureaplasma infections, trauma, psychiatric and other.
Also important are other factors: the use of chemotherapeutic agents, radioactive
procedures, radiation, ultrasound (exact number of application), larger surgical procedures,
toxemia, hemorrhage, eclampsia, rh-immunisation.
Then by trimesters should be examined: first: whether mother immediately know if
pregnant, and if not, how much time passed until it is found out, then, infections of the
respiratory and vaginal or urinary tract, and agents she took (apaurin, iron, vitamins or drugs
for the preservation of pregnancy) and as detailed with dosage. (eg. five vaginalettas or ten
capsules of medication), furthermore if it was irradiated with X-ray or ultrasound, and how
many times, whether it was bleeding and when, smoking cigarettes, taking alcohol, coffee,
drugs or other and how all-day average. To this should be added the information on nutrition-
roughly, meat, milk, fruits and vegetables-and in this connection weight gain and how much.
Similar questions can be set for the other trimesters, for example, first remove babe in the
womb, and when you are.
Since perinatal factors (from the discharge letter maternity hospital) to check: abnormal
position babe in the womb, placenta or umbilical cord and narrowing of the birth canal. Then,
the duration of delivery in terms-early or extended, whether it was in terms or unprofessional
management of labor, delivery with aids or operative intervention. Were you born twins or
triplets, body weight below 2,500 grams, carried over, fetal distress, birth asphyxia.
During childbirth should be as detailed as possible to check. The term-before, at the
time or later, the duration of the first contractions and rupture of membranes, birth weight, birth
length and Apgar 1, 5 and 10 minutes, was it a singleton or multiple pregnancy, the umbilical
cord around his neck. Does the child immediately cried, either blue or revived (oxygen,
medications).
And in the end should be informed of the postnatal factors of vulnerability: respiratory
distress, convulsions, attacks cyanosis, apnea, hypoglycemia. Then, hyperbilirubinemia-how is
treated, skin infections, respiratory and urinary tract, and congenital defects and phenotypic
appearance of the newborn-systematic: head and neck, trunk and extremities, and their
damage.
Only at the end of all this, the clinical picture of the damage set the topographic
distribution handicaps indicating muscle tone (12):
1. monoparesis, monoplegia-it is affected by one member
2. paraparesis, paraplegia-if they are affected two bilateral extremities, lower because of
the involvement of upper relatively rare
3. hemiparesis, hemiplegia-if limbs are affected one side of the body
4. triparesis, triplegia-if you are affected three limbs, usually both legs and one arm
5. quadriparesis, quadriplegia-if they are affected by all four extremties. If the legs or arms
are more severely affected, it specifically means.
Prevention of cerebral palsy is divided into primary (genetic and premarital counseling,
prenatal care and care and protection for pregnant women, gynecological - obstetric care,
neonatal and pediatric care and care and health education in relation to the prophylaxis of
cerebral palsy), secondary (as early as possible detection and diagnosis, registration and
records and good sorted plan and rehabilitation program) and tertiary prevention (it includes
care enough, or even unsuccessfully habilitated/rehabilitated person in special institutions for
social indications, mental retardation, or severe physical damage. It furthermore includes the
important integration of patients with cerebral paralysis in the natural social envinronment (13).
To the organization of treatment of cerebral palsy will be particularly speech, noting that
the rehabilitation should be started as early as possible, as illustrated by the following two
quotations - as a guide: One of lllingworth (1966), "The concept of timely diagnosis of disability
based on the probability of disability, increasingly replaced by the concept of disability

25
diagnosis based on clearly identified clinical manifestacions (14), and the second Sven Brandt:
„If the diagnosis is the first step in the treatment of cerebral damage a child, it does not mean
that the treatment is contraindicated where not set a correct diagnosis“ (1). The optimum time
for the habilitation is of nine months, because during this period plastibility of brain allows the
correction of wrongly established forms of locomotion, which by persistent and continuous
medical gymnastics can do disorder clinically unnoticeably (15).
As noted in the title, and in looking for genetic and unknown factors in the etiology
cerebral paralysis, a survey was conducted in the 208-born children with impairment of the
central nervous system by one of the genetic methods, quantitative analysis of digitopalmar
complex of dermatoglyphics. Results indicate that with a certain probability can say that
genetic and unknown factors play a role in the etiology of cerebral palsy.
Dermatoglyphics are the ridges (papilar lines) that are made by the epidermis on the
palms and volar side fingers, soles and plantar side of toes (16). The term is of Greek origin
and has a meaning: "skin drawing" pattern, something that is carved, engraving (17). The
concept of the term, 1926 in America introduced Cummins and Midlo (18).
Are formed from 6/7, up to 21 or even 25th week of intrauterine develompent (19,20).
Once formed, remains unchanged, except in size, throughout life. As a result, the hand lines
that characterize one man, It can definitely determined at birth, and so are individual to differ
even in identical twins (21). On the formation and shaping of dermatoglyphic influence
polygenic factors (multiple additive genes without domination) with environmental factors, a
the latter is well illustrated by the conclusion De Wilde: "Dermatoglyphs clearly reflect to some
extent even socioeconomic mother's status. As they develop in craniocaudal direction, formed
earlier on palms than the soles (23). The point of their research is well expressed by saying:
"dermatoglyphic properties representing the history of the development period (the fetus)
during which a reef shape (24). Through them, namely, we detecting disorders who then act,
which will be explained later.
Performs their qualitative and quantitative analysis. Qualitative characteristics it is
important to identify the type of pattern on the toes (arch, loop and whorls) or direction
patterns, radial or ulnar loop. Of quantitative traits determined by the number of epidermal
ridges on the finger-tip of each finger, so-called. "Ridge count", and that is the number of
ridges crossing or touching the line connecting the center triradius patterns.
At the base of each digit is called digital triradius, which means the letters a, b, c and d
triradius which lies in the proximal part of the palm near the wrist carpal next to the axis of the
fourth metacarpal bone, called axial triradius and marked with the letter "t".
From the qualitative traits of the palm analysed the presence of patterns in the thenar
area and base of the thumb and the first interdigital space, of which the last two are analyzed
together, then between II, III and IV interdigital spaces and hypothenar. And here are the arch,
loop and whorls, and many transitional forms with the absence of patterns.
Of quantitative traits in the palm of analyzing the number of epidermal ridges between
digital triradii c-d, b-c and a-b, being equal principles apply as in counting the epidermal ridges
fingers. It also measures the angle it closes triradius tie rods "atd" axial triradius "t" and
triradius "d". Denotes as "atd" angle and is about 57 degrees. (Figure).
Clinical experience that damage the central nerovus system can occur for various reasons
imposes opportunities and possible genetic predisposition for it. This finding was a major
incentive for research. According to Nelson and Ellenberg (1982), only one out of five children
with Apgar 3, and or less in five minutes, will develop cerebral palsy notwithstanding other
perinatal varijable (25). Holm, furthermore, in the conclusion of a retrospective study of
cerebral palsy writes: "... that 50 percent of cerebral palsy prenatal origin is at least
underestimated percentage. So, if really want to prevent cerebral palsy, we must redirect our
energies to the study of determintants of prenatal fetal development“ (26). Monreal (1985),
finding out 60 to 70 % of children with cerebral palsy have a fimily background of neurologic
deficits that are possible genetic origin (27).
We examinded 208 pairs of dermatiglyphic prints of palms and fingers of chidren with

26
damage of the central nerovus system and compared with a control group of 400 imprints.
Patients were classified by gender, heavines and form of damage, that is, male and female,
heavy, and medium-heavy to damage (as mentioned before scoring quantification), and those
with tetraparetic, paraparetic and hemiparetic form of damage. There were 122 male and 86
female subjects. Of these 61 male patient with heavy (20 to 29) and 61 with medium heavy
(30 to 39 points). 46 female patients were heavy and 40 with medium heavy damage. Male
patients with tetraparesis was 76, paraparesis with 29, and 17 with hemiparesis. 41 female
patients had tetraparesis, 23 paraparesis and hemiparesis 22. The control group consisted of
200 male and 200 female pairs palm prints and fingerprints phenotypic healthy people Zagreb
region (28).
A total of 18 variables metric traits of dermatoglyphic digitopalmar complex were
analyzed (all ten fingertips), three on each palm of the number of epidermal ridges between
triradii c-d, b-c and a-b, and atd angle on both sides (Figure).

Take pictures areas of quantitative dermatoglyphic analysis of the fingers and palm of the hand

27
From the results of the research, it can be seen that the male gender was far more
often affected by changes of dermatoglific drawings of female (13 to 2 characteristics). This
can be explained by the fact of male more ecosensitivity fetuses (22). Significant further fact
that the metric properties of dermatoglyphics related to sex, and it is necessary to analyze
separately by sex, because there are large statistically significant differences for sex between
healthy and control groups (29,30,31,32,33,34,35).
In the analysis by sex, significantly reduced the number of ridges to control in male
patients was found between triradii c-d, b-c and a-b right there and c-b a-b left hand and in
female patients between triradius a-b right palm. Given the heavines of the damage (heavy
and medium heavy) in male patients there was a statistically significant difference to control in
terms of reducing the number of epidermal ridges between triradii b-c and a-b-right and c-d
and a-b left palm, with heavy and an increased number of ridges on the second finger of his
right hand, the same group of patients. And the form of damages due to the topographic
clinical neuromotor outfall were found significant differences to the control. In men with
tetraparetic form pattern was found reduced the number of epidermal ridges between triradii
b-c right and c-d and a-b left hand, and in women with hemiparesis, also reduced the number
between triradius b-c right palm.
As for the results obtained what can be concluded?
It seems that some people or even whole groups of people, genetically more prone to
perturbations development of environmental factors to others (36). At that, then, builds
hypothetical action to harmful agents during the development of dermatoglyphics (range, 6.7.,
and to 25 weeks of intrauterine development). So, one possibility is that the stress factors
acting at the end of embryo development during organogenesis when creating the
majororgans and organ systems and when the embryo is most susceptible to the harmful
effects of many different external and internal factors (called the critical period) in the
development of the embryo, and lasts from the beginning fourth (37) or more precisely from 14
days to the end of the eighth week of intrauterine development (38). The second, and more
likely to be harmful factor acting at an early fetal stage of development, starting from the ninth
week onwards. And third, the most likely possibility is that the effect of the unknown factor was
the second trimester prenatal. But why? Then, in fact, begins the next critical period: the
massive migration of neural cells under the code under a simultaneous migration of skin cells
to form epidermal ridges (39). Since this is a damage of the central nervous system in this
disorder-cerebral palsy - a hypothetical pathogenic factor acted precisely in those moments at
the same time damaging the development of brain structures with disorders dermatoglyphic
design drawings (somewhere between 10 and 21 weeks of intrauterine development). This is
supported by the fact that most of the deviation from the normal dermatoglyphic features found
on the palms, and they develop craniocaudal, therefore, before on the palms then the fingers,
as the likelihood of action noxa approaching 10th and does not move to 21 week of
development week. As the once formed dermatoglyphs stable (after 25 weeks of intrauterine)
do not change, nor by birth and not even the deepest age, it is possible, from the looks of them
read or detect some time effect noxa, which indicates an unknown factor in the etiology of
children cerebral paralysis. Concluding link in the reconstruction chain diseases is that in
genetically predisposed ground with unknown effects of stress factors and the difficult
conditions of delivery, precipitate disease.
In the end what is the point, or rather, the benefits of this research? It is on the one
hand prevention of cerebral palsy, and on the other, as soon as possible (re)habilitation
treatment.
Immediately after birth, should be taken digitopalmar fingerprints of children with risk
factors in order to timely intensive medical gymnastics within nine months after childbirth
(because of plastibility of brain), for best results.

28
Literature

1. Bela, M .: Early diagnosis of cerebral palsy and its importance to treatment, Med. Jad. 7:
248, 1975
2. Sabol, R .: "Cerebral Palsy" Viewing the problem of mentally retarded people, 10: 743,
1971
3. Stojčević-Polovina, M .: Early and superearly rehabilitation of children with deviations from
motor development. Thesis, School of Medicine, University of Zagreb, Zagreb, 1978, p. 22
4. Bobath, B .: "Th Very Early Treatmant of Cerebral Palsy", Develop. Med. Child Neurol 9/4:
373-390, 1967
5. Grčević, N .: Spastic cerebral polsy. In: Medical Encyclopaedia, Vol. 6, JLZ, Zagreb, 1970,
p. 7
6. Rusk, H .: Rehabilitation Medicine, Mosby, St. Louis, 1977
7. Stojčević-Polovina, M .: The ability of modern treatment of children with central nervous
system damage. In: The rehabilitation of children with physical disabilities, Krapinske spa
April 20-22, 1989, p. 33
8. Stojčević-Polovina, M .: Functional Evalution of Children's Locomotorial Apparatus, Acta
med. iug., Vol. 35 (1981): 183-191.
9. Cvjetičanin, M., Mrkalj, R .: Overview of preventive measures given the locomotor system of
pre-school children. Presentation held at the 10th symposium of nurses preschool work
organization, Crikvenica, May 22-24. 1990
10. Philipot, J., Muntoni, F., Skellett, S., Dubowitz, V .: Congenltal symetrical weaknes of the
upper limbs resembling brachial plexus palsy; a possible sequel of drug toxicity in first
trimester of pregnancy? Neuromus Dis. 5 (1): 67-9, 1995
11.Stojčević-Polovina, M., et al .: An interdisciplinary team approach to monitoring the
development of vulnerable children, An.Klin Hosp. "Dr. M. Stojanovic", Vol. 26, no. 1-2,
1987, p. 3-17
12.Cvjetičanin, M .: Quantitative analysis of the digitopalmarmar dermatoglyphics in children
with clinical signs of central nerovus system damage. Master thesis, Centre for
Postgraduate Studies of the University of Zagreb, Zagreb, 1990
13.Stojčević-Polovina, M.: polyvalent rehabilitation of children, An Klin Hosp. "Dr Mladen
Stojanovic", Vol. 27, no. 1-2, 1988 p. 73
14. Illingworth, RS: The Diagnosis of Cerebral Palsy in the First Year of Life, Dev. Med. Neurol.
8: 178, 1966.
15. Stojčević-Polovina, M., et al .: The contemporary rehabilitation approach to the problem of
vulnerable children, An. Klin. Hosp. '' Dr. Mladen Stojanovic ", Vol. 27, no. 1-2, 1988, p. 20
16. Mulvihill JJ, Smith, DW: The Genesis of dermatoglyphics, J.Pediatr, 75: 579-589, 1969.
17. Felsher, MI: A Quick Look at Dermatoglyphics, Arch. Dermatol 84:67-80, 1961.
18. Zergollern-Čupak, Lj.: Introduction to medical genetics with clinical cytogenetics, Liber,
Zagreb 1980, p. 256
19. Dermatoglyphs in anthropological research: in Practicum of biological antropology, p. 9,
Zagreb, in 1989.
20. Zergollern-Čupak, Lj., et al .: Medical Genetics, School books, Zagreb, 1987.
21. Škrinjarić, I., et al .: Heredity drawings on tipfingers and their use in determining the
zygosity of twins, Acta med. in grams., 38: 331-337, 1984.
22. de Wilde, AG: Reflections on Ridge Systems or the Development of Glyphologics, Coll.
Antropol, 2:111-120, 1982.
23. Stefoski, D .: Dermatoglyphs and their practical application, Medicinar, 21: 183, 1970
24. Babler, WG: Embryonic development of epidermal ridges and their cofigurations; in; Plato
CC, Garruto RM, Schaumann BA (eds): Dermatoglyphics Science in Transitionn.NewYork,
Wiley-Liss, 1991, pp 95-112
25. Nelson K, B, Ellenberg, JM. Obstetrical complications and Apgar scores as risk factors for

29
Death, cerebral palsy or seizures, Proceadings of Clinical Neurology Sciety, Salt Lake
City, Utah, 131, 1982
26. Holm, VA: The Causes of Cerebral Palsy, JAMA, 247: 1473-77 1982
27. Monreal, FJ .: Consideration of Genetic Factors in Cerebral Palsy, Dev. Med Child. Neurol.
27: 325-330, 1985
28. Shmutzer, Lj., et al .: Analysis of quantitative traits digitopalmarnih dermatoglyphic in
inhabitants of Zagreb, Acta med. iug 31: 409-423, 1977
29. Arrieta, MI, et al .: Fluctuating dermatoglyphic asymmetry: genetic and prenatal influences,
Ann. Hum. Biol. 1993; 20(6):557-63
30. Chakaborty, R.: The role of of heredity and environment on dermatoglyphic traits. Birth
Defects Series: Original Article Series 1991;27(2)151-91
31. Bieder, J., et al.: Analysis of dermatoglyphitcs in a population of female psychiatric
patients. Ann. Med-psycholog 1991;149 (5):434-42
32. Arrieta, M., et al .: Effects of genetic and environmental factors on the a-b, b-c and c-d
interdigital ridge counts. Hereditas 1992;117(2):189-94
33. Sorensen, JC, et al .: Dermatoglyphic asymmetry and testosterone levels in normal males.
Am. Phys Anthropology, 1993; 90(2):185-98
34. Malina, Ft., Bushang, P .: Antropometrlc asymmetry In normal and mentally retarded
males. Ann Hum Biol. 1984; 11: 515-531
35. Bener, A. Sex differences and bilateral asymetry in dermatoglyphic elements on the
fingerprints. Ann Hum Genet 1979;42:333-342
36. Wilber, E., et al .: Dermatoglyphic asymmetry and fetal alcohol syndrome. Biol Neonate
1993;64(1):1-6
37. Posinovec, J .: Embrinal development of man: In Fetus as a pacljent (ed. Kurjak), Naprijed,
Zagreb, 1991, p. 21
38. Adams, R. D, Victor, G .: Principles of Neurology, McGraw-Hill, New York, 1985
39. Bracha, HS et al .: Second-trlmestar markers of fetal size and shisophrenia: a study of
monozygotic twins, Am J Psychiatry of 149;(10):1355-61,1992

30

You might also like