Genetyczne przyczyny upośledzenia umysłowego, z którymi neurolog może spotkać się w codziennej praktyce

Jastrzębski, Karol; Kacperska, Magdalena Justyna; Pietras, Tadeusz; Radek, Maciej

Journal

Aktualności Neurologiczne

2013 | 13 | 2 | 119–129

Article title

Genetyczne przyczyny upośledzenia umysłowego, z którymi neurolog może spotkać się w codziennej praktyce

Authors

Karol Jastrzębski , Magdalena Justyna Kacperska , Tadeusz Pietras , Maciej Radek

Content

Full texts:

119-129 Neurologia 2_2013 Jastrzebski.pdf

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The genetic causes of mental retardation, which the neurologist may encounter in everyday practice

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Abstracts

Mental retardation is defined as significantly lower than the average level of intellectual functioning in association with impairments in adapting, binding to changes in the central nervous system. Alternatively, such terms as mental stunting, reduced intellectual performance, mental retardation and intellectual disability, and more recently learning disorders, are used. In the 1990s there have been tremendous changes in terms of mental retardation by deviating from the traditional medical and biological concepts, according to which the impairment was treated as a state of irreversible and defining a low ceiling development. Mental retardation is not only biological disorder, but also the psychological state which occurs as a result of improper development process. The impact on this state are: the prenatal period (exposure to X-ray beam, the use of drugs by the mother during pregnancy, alcohol, cigarette smoke, drugs, viral and bacterial infections, immune factors), the perinatal period (shock to the newborn child, the brain damage, premature birth, asphyxia, iatrogenic mistakes) and postnatal period [a history of infectious diseases and complications of (measles and whooping cough), trauma (accidents), poisoning (e.g. lead) and food poisoning]. Classification of intellectual disability can be very different depending on the selected criteria. The most famous is a four stage classification of degrees: 1) light, 2) moderate, 3) a large and 4) deep retardation. As shown, genetic factors play a very important role in the causes of mental disability. Among the genetic factors that cause impairment are distinguished: changes in the number or structure of chromosomes, single-gene mutation, polygene and epigenetic heredity. More and more researchers focus on in-depth assessment of the role of genetic factors for these disorders. Not all of the factors has been discovered and thoroughly investigated, so further research is necessary. It is also clear that mental retardation, autism and epilepsy have a lot in common. Presented by us work presents some of the disease and their genetic causes.

Upośledzenie umysłowe określane jest jako istotnie niższy od przeciętnego poziom funkcjonowania intelektualnego, występujący łącznie z upośledzeniem w zakresie przystosowania się, wiążący się ze zmianami w ośrodkowym układzie nerwowym. Zamiennie używa się takich terminów, jak: niedorozwój umysłowy, zahamowanie rozwoju umysłowego, obniżenie sprawności intelektualnych, opóźnienie rozwoju umysłowego oraz niepełnosprawność intelektualna, ostatnio zaś mówi się o zaburzeniach w uczeniu się. W latach 90. XX wieku nastąpiły ogromne zmiany w ujęciu upośledzenia umysłowego. Nastąpiło odejście od tradycyjnej, medycznej i biologicznej koncepcji, według której upośledzenie było traktowane jako stan nieodwracalny i wyznaczający niski pułap rozwojowy. Upośledzenie umysłowe jest nie tylko zaburzeniem biologicznym, ale także psychologicznym stanem, do którego dochodzi się w rezultacie nieprawidłowego procesu rozwojowego. Wpływ na ten stan mają: okres prenatalny (naświetlanie promieniami rentgenowskimi, zażywanie przez matkę leków w czasie ciąży, alkohol, dym papierosowy, narkotyki, wirusowe i bakteryjne zakażenia, czynniki immunologiczne), okres perinatalny (wstrząs dla rodzącego się dziecka, uszkodzenia funkcjonowania mózgu, przedwczesny poród, zamartwica, błędy jatrogenne w okresie okołoporodowym) oraz okres postnatalny [przebyte choroby zakaźne i powikłania (odra i krztusiec), urazy (wypadki), zatrucia (np. ołowiem) oraz zatrucia pokarmowe]. Klasyfikacja upośledzeń umysłowych może być rozmaita, zależy od wybranego kryterium. Najbardziej znana jest czterostopniowa klasyfikacja: 1) upośledzenie w stopniu lekkim, 2) umiarkowanym, 3) znacznym oraz 4) głębokim. Jak wykazano, bardzo ważną rolę w przypadku przyczyn upośledzeń umysłowych odgrywają czynniki genetyczne. Wśród czynników genetycznych powodujących upośledzenie umysłowe wyróżnia się zmiany związane z: liczbą lub strukturą chromosomów, mutacjami pojedynczego genu, poligenowym i epigenetycznym dziedziczeniem cechy. Coraz więcej badaczy koncentruje się na wnikliwej ocenie roli czynników genetycznych w przypadku tych zaburzeń. Nie wszystkie czynniki, jak dotąd, zostały odkryte i dokładnie zbadane, zatem niezbędne są dalsze badania. Nie ulega również wątpliwości, iż upośledzenie umysłowe, autyzm oraz padaczka mają ze sobą wiele wspólnego, gdyż część pacjentów spełnia kryterium rozpoznania wszystkich ww. jednostek chorobowych. Prezentowana praca przedstawia wybrane jednostki chorobowe i ich genetyczne podłoże.

Keywords

Angelman syndrome Duchenne muscular dystrophy Prader-Willi syndrome Rett syndrome Smith-Lemli-Opitz syndrome czynniki genetyczne dystrofia mięśniowa typu Duchenne’a genetic factors mental retardation mental retardation associated with fragile X chromosome neurology stwardnienie guzowate tuberous sclerosis upośledzenie umysłowe upośledzenie umysłowe związane z łamliwością
chromosomu X zespół Angelmana zespół Pradera-Williego zespół Retta zespół Smitha-Lemliego-Opitza

Discipline

MEDICINE: MEDICINE

Publisher

Journal

Aktualności Neurologiczne

Year

2013

Volume

Issue

Pages

119–129

Physical description

Contributors

author

Karol Jastrzębski

Klinika Neurologii i Epileptologii, Katedra Chorób Układu Nerwowego, Uniwersytet Medyczny w Łodzi

author

Magdalena Justyna Kacperska

Klinika Neurologii i Epileptologii, Katedra Chorób Układu Nerwowego, Uniwersytet Medyczny w Łodzi, magda-kacperska@o2.pl

author

Tadeusz Pietras

Klinika Pneumonologii i Alergologii, Uniwersytet Medyczny w Łodzi

author

Maciej Radek

Klinika Neurochirurgii i Chirurgii Nerwów Obwodowych, Uniwersytecki Szpital Kliniczny im. Wojskowej Akademii Medycznej w Łodzi – Centralny Szpital Weteranów

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