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PubMed1962

A histochemical study of various forms of cerebral lipidoses.

A histochemical study was made of 13 cases of lipidoses of the central nervous system. Niemann-Pick's disease can be differentiated from other cerebral lipidoses by the finding that all affected cells store histochemically stainable phospholipids. Evidence has been adduced indicating that the material stored in infantile amaurotic idiocy is a complex containing ganglioside, cholesterol, and possibly other constituents. The non-infantile forms of amaurotic idiocy were found to differ in essential points from the classical infantile form.

Brain↗

PubMed1999

John Langdon Down: the man and the message.

John Langdon Down was the son of a village grocer. Born in Torpoint, Cornwall, in 1828, he was the 6th child of religious parents. He worked in the family business until he was 18 years old and he then qualified as a pharmacist before ultimately entering medical school at the London Hospital. He won numerous medals and prizes and immediately after taking his medical degree he was appointed medical superintendent of the Royal Earlswood Asylum for Idiots in Surrey. He reformed the institution and his efforts at classification resulted in his description of what he called Mongolian idiocy. His findings were based on measurements of the diameters of the head and of the palate and on his series of clinical photographs. He was a pioneer of the use of photography in hospitals. Mongolian idiocy became a widely used term but in 1961 a group of genetic experts wrote to the Lancet suggesting four alternatives. The editor chose Down's syndrome. WHO endorsed this later. Langdon Down was a supporter of liberal causes. He made important contributions to medical science, developed a large practice and he died a wealthy man in 1896. Normansfield, his private training and educational centre, had an international reputation. Only recently has his place in medical history been recognized.

Down Syndrome↗

PubMed1986

[Features of the organization of occupational therapy in the complex treatment of patients with severe degrees of mental retardation].

A clinical and experimental study of two groups of patients with idiopathic oligophrenia in the stages of idiocy and deep imbecility bordering on idiocy (48 adults aged 23-35 years and 14 boys aged 12-16 years with different terms of total hospitalization) has shown the possibility of changing behavioural reactions of the patients. Stable occupational skills for performing two kinds of elementary work (preparation of half-finished cardboard boxes and assembling of panels) have been cultivated in the patients. The methods for the organization of labor therapy for patients suffering from erectile and torpid forms of this disease have been elaborated. The data suggest that it is possible to develop purposeful forms of behaviour in patients of this group. Comparison of two different age groups shows the necessity of the earliest possible employment of labor therapy in the combined treatment aimed at correcting the psychomotor defects.

Adolescent↗

PubMed1985

[Features of the psychic functions of patients with severe degrees of oligophrenia].

Clinical and experimental study involving occupational therapy was conducted in two age-different groups of patients with idiopathic oligophrenia at the stage of idiocy and profound imbecility bordering on idiocy. It proved to be possible to alter behavioural reactions of the patients and to develop in them some stable occupational skills. The results obtained point to the possibility of the development of the primitive purposeful forms of behaviour and correction of the psychomotor defects by occupational therapy, particularly in early childhood. Methodology has been elaborated for organizing the process of occupational therapy.

Adolescent↗

PubMed1979

[The concept of mental deficiency. Evolution of theories, attitudes and practices].

In the last twenty years a deep renewal of the conceptions about and the treatments of the mentally deficients has taken place. In an attempt to clarify somehow the confusion in the communication between specialists, the author reminds the classical position on this subject, which relies upon the definition of the idiocy: a state of a severe mental defect, set up early in life, with an organic cause and being incurable for this reason. In spite of the later considerable differenciation at different levels and types, the classical position maintains this definition as the ground of the nosographic class of the mental retardations (debility is considered then as a light idiocy), divided in two sub-classes of either "polygenic heredity" or accidents causing early brain damages. From a clinical point of view, such a theoretical position is difficult to apply, especially in cases of middle and light mental defects. From a theoretical point of view, this classical position has been often attacked: by the evidence of the socio-cultural factors of the intellectual development, by the analysis of the so-called instrumental troubles, by the studies about the early lack of mother-care and the child-psychoses with a defect, by the more recent works on dysharmonic evolvements, etc. All this has lead to major theoretical changes which force to give up the illusion of a "single class" of mental retardations and study therefore each case in the trajectory of its development, not only of the cognitive patterns but also of the whole personality structure. This clinical approach forces to admit organic, environmental (sociological and psycho-sociological) and relational, dynamic factors as well; and, to accept that their combination, replaced in a genetic context of the functioning patterns, establishes a new, properly psychological level of causality. So, even the idea of a "defectology" is non-sense; the factors and the problems in question are the same as in any other psychogenesis. Nevertheless, the study of cases, in which this psychogenesis is caracterized by a mental deficit, is very important.

Adolescent↗

PubMed1975

Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.

Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 3; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM1 gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease, This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery.

Adolescent↗

PubMed1978

Dysmyelination revisited.

Dysmyelination describes an inborn error of metabolism affecting myelinogenesis that causes it to be abnormal, arrested, or delayed. Abiotrophy or myelin as defined by Gowers, due to metabolic failure of the myelin maintenance system, is yet another feature of dysmyelination. In addition to the leukodystrophies, genetically determined conditions such as infantile amaurotic idiocy, hematosidosis, Niemann-Pick's disease and several of the aminoacidopathies are examples of dysmyelinating diseases. In order to reconcile morphological and neurochemical data in these conditions, it is necessary to reexamine a number of pathogenetic hypotheses based on known enzymatic deficiencies, and the interpretation of fragmentary biochemical analyses. The obligatory role of the neuron and axon in myelin formation and maintenance is reviewed. The hypothesis is advanced that gangliosides and their degradative products constitue precursors for the synthesis of the characteristic myelin sphingolipids cerebrosides, sulfatides, and sphingomyelin. Alterations in axoplasmic flow and of ganglioside metabolism must be condidered as important factors in the pathogenesis of dysmyelination.

Axons↗

PubMed1992

Perspective of biochemical research in the neuronal ceroid-lipofuscinosis.

The search for biochemical abnormalities in the neuronal ceroid-lipofuscinoses (NCL) or Batten disease was initiated with the discovery of normal levels of gangliosides in juvenile amaurotic idiocy. The primary goal of most biochemical studies has been to discover the unique biochemical marker for carriers and at-risk individual. Ceroid, the singular pathomorphologic trait of NCL, was isolated and shown to differ from a similar but normal product of aged cells, lipofuscin. In spite of the availability of stored product, the chemical analysis of ceroid has not elucidated the unique biochemical defect in the NCL, as has been the case for other lysosomal storage disorders. The NCL were thought to be a result of lipid peroxidation because ceroid is also found in disorders of impaired vitamin E metabolism or results from a diet deficient in the antioxidant, vitamin E. In addition, tissue analysis indicated losses of polyunsaturated fatty acids in affecteds and carriers, as well as the presence of a secondary product of lipid peroxidation, 4-hydroxynonenal, in affected and carrier NCL dogs. With the exception of a fluorescent compound isolated from retinal ceroid, studies aimed at discovering the disease-specific fluorophores of ceroid have been largely inconclusive. The discovery of elevated dolichols in urine and brain tissue of NCL patients led to another hypothesis, that the basic biochemical defect in NCL involved the metabolism of dolichols and retinoids. However, the more recent view is that dolichol metabolism is secondary to the unknown NCL lesion.(ABSTRACT TRUNCATED AT 250 WORDS)

Biomarkers↗

PubMed1976

[Sphingolipid storage disease as an example of a molecular neuropathology (author's transl)].

A short survey on the sphingolipid storage diseases is presented. The chemical nature of the accumulated substances is related to the genetically induced enzymic blocks on their biodegradation. Two disorders are stressed with alter the nervous system: metachromatic leukodystrophy and familiar infantile amaurotic idiocy (GM2-gangliosidosis). The difficulties in the causal interpretation of three variants of the latter disease due to the involvement of isoenzymes are dealt with. The relationship between the enzyme defect in these disorders and their time of clinical onset is discussed. Finally, the diagnostic possibilities are presented which are a prerequisite for preventing a further dissemination of these therapy-resistent inborn errors of metabolism.

Child, Preschool↗

PubMed1975

An unusual type of infantile lipofuscinosis.

The case of a child is described who at the age of 2 years showed the first evidence of a developing neurological disease. Within a couple of years, profound mental retardation and severe motor deficit with spastic tetraplegia became established. No seizures and no pigmentation of the retina were observed. The condition remained practically unchanged for some 8 years and the patient died at 12 years of age of terminal bronchopneumonia. At autopsy there was conspicuous diffuse atrophy of the brain. The cerebral cortex was particularly involved. Most of the cortical neurons were destroyed and neuroglia showed abundant proliferation. The few remaining neurons contained inclusion material which was identified as lipofuscin. Noticeable cedifferences from the various types of amaurotic idiocies are noted and similarities to a case of lipidosis recently reported from Finland are suggested.

Atrophy↗

PubMed2000

The insomnia plague: a Gabriel García Márquez story.

"All the great writers have good eyes" is a sentence by V. Nabokov that is very suitable for G.G. Márquez and his One Hundred Years of Solitude. The novel, published in 1967, introduces among many others, the character of little Rebeca, whose frailness and greenish skin revealed hunger "that was older than she was". The girl, because of a pica syndrome, only liked to eat earth and the cake of whitewash. But her fate appears to be determined by the lethal insomnia plague, whose most fearsome part was not the impossibility of sleeping but its inexorable evolution toward a loss of memory in which the sick person "sinks into a kind of idiocy that had no past". Rebeca's lethal insomnia looks quite similar to the "peculiar, fatal disorder of sleep" originally described by Lugaresi et al. in 1986. One Hundred Years (of Solitude shows that G.G. Márquez was gifted not only with good eyes, but has the seductive power of changing reality into fantasy, while transforming his visions into reality.

Child↗

PubMed2003

History of sympathetic surgery.

The first reported operation on the upper sympathetic system was performed by Alexander in 1889. The initial indications (epilepsy, exophthalmic goiter, idiocy, glaucoma) are obsolete. For some subsequent indications (angina pectoris, vasospastic disorders, and painful conditions) sympathectomy has still a limited application. The main indications today are hyperhidrosis (since 1920) and blushing. Renewed attempts to perform the operation for psychological conditions have been reported. The technique of sympathectomy has been modified over the century, with a trend to minimize the extent of surgery: from open to endoscopic approaches; from resection of ganglia to thermoablation, thermotransection, and clipping. The sequelae of the operation (mainly compensatory hyperhidrosis) present a major problem in a small percentage of operated patients. Techniques of reversal (by nerve grafting and unclipping) have been proposed. Meticulous follow-up studies are required to evaluate the merits of these techniques. Improved knowledge of the functions and interrelations of the autonomic nervous system is required to understand the mechanism of these sequelae and learn how to avoid or treat them.

History, 19th Century↗

PubMed1986

The study of childhood language disorders: nineteenth century perspectives.

Childhood language disorders have been known and studied at least as far back as the early nineteenth century. The results of the early investigations, however, have essentially been forgotten. The aim of this article is to recall the investigators of the nineteenth century and their findings. Throughout most of that period efforts were directed simply at establishing the existence of mutism without deafness or "idiocy." In the last two decades an "information explosion" took place, authored by a small group of German-speaking physicians. On the basis of their clinical observations they described the disorders, offered theories on their nature and etiology, and devised therapy programs. These findings and theoretical constructions are presented, along with information on the probable sources of the authors' ideas. Although resemblances to modern concepts are often striking, it seems unlikely that the earlier work is the source of the more recent ones.

Child↗

PubMed1985

Sanctified madness: the God-intoxicated saints of Bengal.

The saintly madman is a familiar character in South Asia. To outer appearances he is no different from a lunatic, but the mad saint comes to be revered because his idiocy is popularly believed to arise from a different cause than ordinary madness. The common psychopath neglects social conventions because his consciousness is dimmed by incapacity; the saintly madman also breaches convention, but does so because his heightened consciousness has liberated him from the bonds of convention that entrap ordinary people. In the terms of Hinduism, he has tasted the divine nectar of God-realization and has returned to the human realm intoxicated by the experience. In this paper two popular God intoxicated saints of Bengal are discussed. The question is posed whether 'God intoxication' can be considered a culture-bound syndrome of Bengal. The concept of 'culture bound syndrome' is found to be too narrow to encompass the most significant issues to arise from reflection on the characteristics of the God intoxicated. These larger issues have to do with the relationship between cultural practices and models and mental states (whether deviant, as implied by the term 'syndrome' although deviance does not always carry the negative connotation implicit in 'syndrome', or normal). It is suggested that all cultures culture a limited range of mental states and thus the questions posed by the notion of culture bound syndromes are subsumed by larger questions about the relationship of all mind-states to the socio-cultural environment which conditions them. The conclusion is that God intoxication is indeed a uniquely Bengali mental condition, with variants throughout South Asia and kinship to other mystical states, but that the concept of 'syndrome' is not useful.

Adult↗

PubMed2006

The neuronal ceroid-lipofuscinoses: from past to present.

The neuronal ceroid-lipofuscinoses (NCLs) are inherited lysosomal storage diseases and constitute the most common group of children's progressive encephalopathies. Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death, while the rare adult forms are dominated by dementia. All forms of NCL share common pathomorphological features. Autofluorescent, periodic acid-Schiff- and Sudan black B-positive granules, resistant to lipid solvents, accumulate in the cytoplasm of most nerve cells, and there is progressive and remarkably selective neuronal degeneration and loss. For a long time, the NCLs were grouped under the heading of the "amaurotic family idiocies" and conceived as lipidoses. However, in the late 1980s and 1990s the NCL storage cytosomes were shown to consist largely of two hydrophobic proteins: either subunit c of mitochondrial ATP synthase or sphingolipid activator proteins A and D. Since 1995 numerous mutations in at least seven different genes have been shown to underlie the multiple human and animal forms of NCL. This review discusses the historical evolution of the NCL concept and the impact of the recent biochemical and molecular genetic findings on our views on the classification and pathogenesis of these devastating brain disorders.

Cerebellar Cortex↗

PubMed1975

Mental retardation, hypotonia, and generalized seizures associated with astrocytic "residual" bodies. An ultrastructural study.

Two siblings suffering since birth from convulsions, hypotonia, and mental retardation are presented. In the older sibling (eight and one-half years of age) frontal lobe biopsy revealed abnormal cytosomes with lamellar profiles in astrocytes, macrophages, and to a lesser degree in neurons. Similar cytosomes have not yet been reported in cases of sphingolipidoses or in late infantile-juvenile amaurotic idiocy. These cytosomes stained intensely with silver proteinate, an ultrastructural cytochemical stain for carbohydrate moieties. In contrast, lipofuscin did not stain with silver proteinate. Multilamellar (crescentic curvilinear) cytosomes from a reported case of late infantile amaurotic idocy (Batten-Vogt-Spielmeyer disease) did not stain with silver proteinate. Abnormal cytosomes were not found in blood cells, liver, and peripheral nerve. In the younger sibling (14 months old) postmortem ultrastructural studies of cerebral tissue showed very few abnormal cytosomes. On the basis of the clinical and ultrastructural findings, we conclude that these two cases can be distinguished from those with multilamellar (crescentic-curvilinear) inclusions and from cases of the so-called "neuronal ceroid-lipofuscinosis" syndrome.

Astrocytes↗

PubMed1982

Menkes' kinky hair disease. II. A clinicopathological report of three cases.

The neuropathologic abnormalities in three new cases of Menkes' kinky hair disease are described. Principally the three cases were the same. Hypoplasia of the cerebellum, with a basal arachnoïdal cyst, was present in all three cases. The cysts were not described before in Menkes' disease. There was nerve cell loss and gliosis in the cerebral cortex, cerebellum and thalamus. The reduction of myelinated axons was widespread and the disease does not belong to the leukodystrophies. Cortical lamination disturbances were present indicating that the disease develops as early as the sixth fetal month. Abnormal arborization of Purkinje cells with swelling of dendrites was present and thought not to be identical with the Purkinje cell abnormalities seen in amaurotic idiocy. The difference in severity of the copper deficiency in 2 patients is compared with the situation in "brindled" and "blotchy" mutant mice.

Brain↗

PubMed1999

History of mental retardation: an essay review.

The history of mental retardation previously focused on residential institutions and the ideas of professionals. Given that the vast majority of people with mental retardation lived in their family homes or other locations in their communities, this emphasis has been misleading. Recent historical studies by James W. Trent Jr.; Philip M. Ferguson; Steven Noll; and the British scholars in David Wright and Anne Digby's collection, From Idiocy to Mental Deficiency, have opened up the field by describing the complicated relationships between families and the state, by outlining the development of lay concepts of mental disabilities, and by acknowledging the wide diversity of experiences of people with mental disabilities.

Historiography↗