Supervisors info:
Βασιλική Αλεπόρου - Μαρίνου, καθηγήτρια Βιοχημικής και Μοριακής Γενετικής, Βιολογικό Τμήμα Πανεπιστημίου Αθηνών (ΕΚΠΑ)
Summary:
By the term ‘intelligence’, we refer to the mental function with which we take on, understand and react to various stimulations.
The verbal and practical are the only measurable kinds of intelligence. The intelligence quotient (I.Q.) comes up from the mental age (in months) divided by the chronological age and the quotient multiplied by 100. The average intelligence quotient is 100 ± 15. When the I.Q. or mental indicator is lower than 75, we face serious intellectual disability. The intellectual disability is divided in grades. When the intelligence quotient is lower than 20, the mental disability is characterized as very heavy and the person is completely depended on others for life. In the case of heavy mental disability (I.Q. 20 – 34) there is the possibility of semi- self-service in protected environment. People with moderate mental disability (I.Q. 35 – 49) have the mental age of a 7-year-old and the social age of a 15-year-old. Finally, people with intelligence quotient 50 – 70 have slight mental disability and their mental age is between 7 and 10 years old.
The cause of mental disability is divided into genetical and organic such as mutations and metabolism irregularities, and psychological and social like the social and financial status or a poorly stimulated environment.
By the term ‘genetical mutations’ we refer to permanent changes to our DNA. The DNA areas which contain information are called genes. The DNA is packed in 23 pieces which are called chromosomes and we have them in 2 copies, ergo we have in total 46 chromosomes. The genes that locate in corresponding locations in counterpart chromosomes are called allele. A number of characteristics is controlled by one and others by more than one gene and the environment. The total number of genes of an organism forms its genotype while what we can observe in a moment makes its phenotype. There are cases in which different genotypes produce the same phenotype (prevailing – recessive and prevailing – prevailing allele genes) but also cases in which same genotypes produce different phenotypes (after environmental effect). Depending on the extension, mutations are divided in gene and chromosome ones. The types of chromosome mutations are deficits (where a part is gone missing), doublings (extra duplicate of the chromosome), insertions, inversions, and the case of the ring chromosome (its edges are broken and the new ones piece together forming the ring.
The following table displays the most common genetical syndromes which cause mental disability.
Genetical syndromes which cause mental disability
Klinefelter Turner Williams Dubowitz Laurence – Moon
Aarskog Down Cockayne Rubella Lowe
Angelman Fragile x Coffin Strurge – Weber Mobuis
Apert Prader – willi Cohen Trisomy 18 Neurofibromatosis
Cri du chat Rett Corneliade Fetal alcohol Trisomy 13
The general clinical image includes abnormal body formations as well as direct or indirect health problems and mental disability. The cognitive image usually consists of rather low I.Q. which has as a result restricted mental ability that in certain cases make patients incapable of self – preservation. Finally, the social image includes problematic emotional regulation, intense fear and anxiety, interpersonal communication difficulties, stubbornness and anger.
The treatment part includes medication as well as surgery for the patients’ relief. However, the part of their education is also very important. The education of these patients involves an number of professionals except the usual teacher, such as speech therapists, work therapists and psychologists. The modern educational system is organized in such way that can contribute in a great degree to the education of children with special educational needs. Of course, whatever intervention from the part of the teacher to work, needs to be prescribed by principles which are defined by educational strategies. More analytically, through educational strategies, are defined the way of thinking and acting while planning, executing and evaluating a cognitive project.
Concluding, it is quite important to mention the interventions that can be done by the parents. The first thing to do is identify the potential difficulty as far as reading and writing is concerned (this van also be done by the teacher who then informs the parent). Then they would ask for the help of a professional and follows the given program than van be adjusted by the teacher. Very important for the parent to be able to help its child is to be very patient and persistent but most of all encouraging and hopeful.
Keywords:
genetical syndroms, cromosoml disorders, mental disability, learning disabilities
