jean-loup.huret@atlasgeneticsoncology.org
June 2019
Abstract
Handicapped persons represents about 3% of the general population, and an increasing proportion of handicaps are being shown to be of genetic origin. As a consequence of this frequency, a wider basic knowledge of these situations is essential for any future physician. However, in many cases, the physician is facing the Unknown, and often feels useless. One answer to this problem would seem to be active insertion into the daily life of the handicapped person. In this way, it will be discovered that relationship with these persons is possible; knowledge will be gained about the principal pathologies; experience will be gained in diverse medical practice and diagnosis under difficult circumstances; perception of the development, progress and a deeper understanding of prognosis for these disorders will be acquired. The practical training received will also be of great value in guiding and helping the distressed families to come to terms with their future.
INTRODUCTION
Extent of handicaps in the society An increasing proportion of handicaps, especially those comprising mental retardation, have been or are being shown to be of genetic origin or, at least, to have a genetic component. In an analytical survey of the handicapped population, it was shown for children that 56% are mentally handicapped, 7% are poly-handicapped, 18% have personality, conduct, or other mental disorders, and 19% have only sensory and/or motor handicaps. The corresponding percentages for adults are 62%, 7%, 15% and 17% (Ministère de la Solidarité, de la Santé, et de la Protection Sociale 1989). The french Ministry of National Education estimates the handicapped children’ s population at 360 000 in France (i. e. 3% of school aged population) (cited in : Ministère de la Solidarité, de la Santé, et de la Protection Sociale 1989). Adults with a handicap show a comparable percentage as handicap can develop or appear during life. The French High Authority on Healthcare considers that 3.5 millions people in France are handicapped, of which 650 000 have mental or psychic disability. This population population will increase wy.ith progress in medicine and longer human life expectanc
The physician and the handicapped person It is likely, therefore, that any general practitioner (GP), as well as most specialists, will encounter handicap in the normal course of their duties. Consequently, some basic knowledge of these conditions and of their ramifications is essential, yet it seems to be totally untaught in most medical schools. 1 - The GP is facing the Unknown : - What is the diagnosis, amongst so many diverse diseases? - What is the prognosis? As long as ignorance prevails1, one will tend to predict only the worst outcomes. "Forget him/her/it(!)", "abandon him" are words that the parents have heard (or think that they have heard) from the doctor.2 - The GP often feels useless, faced with these syndromes, having no solution, especially so in the case of a possible genetic or psychiatric disease, terms which stir our deepest emotions and rouse deep fears.3 - He/she is often faced with disturbing physical deformity (especially in the poly-handicapped), incongruent comportment, unusual behaviour patterns and sometimes impossible dialogue (from mental impairment, dysphonia, physician’ s self protection ...). However, once a future physician has had the experience of meeting and mingling with handicapped persons, such pre-concieved concepts of inability to communicate and cope will vanish. Therefore, some insertion into the daily life of handicapped persons appears to be essential if these problems are to be overcome. We believe that such a course is necessary and suggest that its content should cover the following topics/areas.
AIM
MODALITES
1 - Insertion of the student Meeting the handicapped, the unknown : the feared object which-->who becomes a real person. Immersion in the handicapped person’ s day to day life in his school or professional institution, including physical, sensorial, and affective approach during a 1 month training (2 weeks with children, 2 weeks with adults). The student will meet the handicapped children and adults, each with age-specific problems, allowing the student to conceive concretely what a handicapped child’ s prognosis actually means. He will be involved in : the GP’ s and specialist’ s consultations, the paramedical cares, he will be present at school and at work.
2 - Main diseases An undetermined number of diseases may actually be encountered in these institutions, which, practically, will give the student a capacity of adaptation to any new -and unknown- situation. Mainly, however, 4 pathological groups will be encountered : I - Trisomy 21, Fragile Xq, other genetic diseases (including autism(s)?). 2 - Encephalopathies with mental impairment, with or without epilpsy, and/or conduct disorder : a) due to neonatal distress, or, most often b) of unknown origin. 3 - Psychoses (including the above mentioned or other forms of autisms?). 4 - Parent-child relational problems with learning, motor skills and affective disorders.
3 - Medical practice Many diseases that are encountered in the general population are also found in these patients, with, however, some specific characteristics : 1) their higher frequency, 2) their frequent association, 3) additional difficulties in a) disease detection due to impaired communication, b) sometimes in clinical examination, c) in treatment (medicinal associations, real(?) intake of medicaments). Principal morbid conditions : - Orthopédic (inborn/acquired, scoliosis, clubfoot, flat foot, pathologies of the polyhandicapped) - Cardiopathies - Infections (ear, nose and throat, lungs, urinary tract, pathologies of the bedridden...) - Dermatologic (eczema, abscess, mycosis...) - Ophtalmologic - Otologic - Odontologic - Endocrinologic and metabolic (diabetes, thyroid dysfonctions, eating disorders) - Epilepsy - Neurologic and/or psychologic/psychiatric disorders - Conduct disorders - Somatization. But also: - Medical follow up at school/prophylaxy/early detection - Dietetics - Hygiene - Sexuality - Early aging.
4 - Paramedical practice - Psychotherapy, psychoanalysis... - Kinesitherapy (bones, lungs, polyhandicap, knowledge of body image) - Psychomotor therapy (attention deficit and disruptive behaviour disorder ...) - Orthophony - Sport under medical control.
5 - Perceiving the development of a person in his family, at school, at work - Realization of the handicap : during the long period of grief and sorrow, as the family comes to terms with the recognition of the handicap, the family doctor’ s role is essential : he puts a definitive print on the family (but also on the handicapped person). A multidisciplinary team, including the family doctor, has essentially to reconstruct the family, and seek to integrate the patient as far as possible into normal family life. - The teacher -and later the foreman- has to act not only as educator, but also as guide to the interface with the environment. His role is to help the affected person to get to know about himself, about his aptitudes and limits, about his environment to be enabled to act on it, to progressively become a being/subject, with social integration and abilities in work, to come to a certain autonomy, a personal balance, and an improved psychoaffective status. By accompanying these educators in their daily job, the medical student will be enabled to perceive the abilities and limits, needs, and mental structuration of the handicapped person, and, consequently, the dialogue that he may have with him.
6 - Guidance of a family: knowing organisms, associations, and regulations Any GP should know the structures which take charge of the handicapped person, in order to guide, and reassure, these distressed families. - Organisms which: acknowledge the handicap, orientate, assign pensions. - Social Security regulations. - Associations, which role is essential to comfort the family, since people from these associations have suffered a similar experience.
CONCLUSION
The population with a handicap is important enough not to be neglected, inasmuch as they have equal rights towards Health, but most physicians are unprepared for this part of their work. During this training, the medical student will: - learn about the main diseases, - develop a wide and diverse medical practice2, including paramedical, - discover and deepen the relationship doctor/patient/family in heavy situations bearing grave prognoses, - happen to understand the progressive development and maturation of the individual, his potential for fitting into the society around him and his prognosis, - he will get the ability to guide these distressed families, - and he may come to think of ethical problems from his own experience.
We do think that this practical approach completes the basic knowledge that the ASHG proposed as a core curriculum in Genetics for medical students (especially regarding items 2.1s and the chapter on Attitudes). Finally, we would like to know of experiences in this domain in other countries, and that a forum on this subject could be open.