Am J Med Genet C Semin Med Genet. 2010 Nov 15; 154C(4): 389-99
Harris JC

Syndrome-specific behavior was proposed by Langdon Down in his first clinical descriptions. Research interest followed but waned during the eugenics era when antisocial behavior was attributed to people with intellectual disability (ID) and the US Supreme Court legalized involuntary sterilization. When these claims were refuted and behavioral treatments introduced, their focus on environmental determination minimized the importance of biological research. The modern era began with the recognition that patterned behavior, for example, self-injury in Lesch-Nyhan syndrome and hyperphagia in PWS, was syndrome-specific, and when parent support groups pointed out syndrome-specific behavioral similarities in their children. Syndrome-specific rating scales and methodologies followed to allow behavioral comparisons between syndromes. The focus initially was on specific behaviors but with refinements in neuropsychological tests has expanded to include neurocognitive profiles. Greater clarification in genetic diagnoses has led to mutant mouse behavioral models and neurophysiologic and neuroimaging strategies have made possible the study of brain circuits. There is growing interest in investigating the developmental trajectory of behaviors from infancy to adulthood and old age. Because anxiety, mood disturbance, repetitive behaviors, and social deficits commonly occur in people with severe ID, those affected are often given multiple psychiatric diagnoses. This has led to considerable confusion in the literature. It is critical to focus on specific behaviors and cognitive patterns in research and not confuse psychiatric symptoms that lack precise definitions and involve multiple genes, the so-called psychiatric phenotype, with the more specific behavioral phenotype. New treatments based on knowledge of underlying neurobiology call for more fine-grained definition of behavior.

Genet Med. 2009 Sep; 11(9): 611-6
Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO, Delabar JM, Mobley WC

Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most recognizable form of mental retardation, appearing in about 1 of every 700 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who reported its clinical description in 1866. The suspected association of Down syndrome with a chromosomal abnormality was confirmed by Lejeune et al. in 1959. Fifty years after the discovery of the origin of Down syndrome, the term "mongolism" is still inappropriately used; persons with Down syndrome are still institutionalized. Health problems associated with that syndrome often receive no or little medical care, and many patients still die prematurely in infancy or early adulthood. Nevertheless, working against this negative reality, community-based associations have lobbied for medical care and research to support persons with Down syndrome. Different Trisomy 21 research groups have already identified candidate genes that are potentially involved in the formation of specific Down syndrome features. These advances in turn may help to develop targeted medical treatments for persons with Trisomy 21. A review on those achievements is discussed.

Rofo. 2009 Aug; 181(8): 794-5
Eger C, Aschenbach R, Klisch J

Kinderkrankenschwester. 2009 Jan; 28(1): 13
Staub A

Med Pregl. 2005 Nov-Dec; 58(11-12): 587-91
Velisavljev-Filipović G

Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts. Agenesis of corpus callosum may be of syndromic or non-syndromic type. The more common form is the one not associated with any syndrome. The agenesis of corpus callosum is more frequent in male children.This paper presents a child from a twin pregnancy with partial absence of corpus callosum. The pregnancy was not controlled. It ended in premature birth. The afflicted twin is a boy, second in birth order. Apart from agenesis of corpus callosum, he also suffers from Down syndrome. The first twin is healthy, with corpus callosum and with normal karyotype. There was no consanquinity. In the 6th month of pregnancy the mother suffered from infection of the upper respiratory tract that might be the etiological factor of this anomaly. The child was born with hypotrophy, and all anthropometric parameters were below the third percentile. In the neonatal period, the agenesis of corpus callosum was diagnosed by ultrasonic examination and confirmed by CT and MR examinations. The child is now three and a half month old. Active monitoring of the psychical and motor development will show whether there will be any retardation in the psycho-motor development and later deficiency of the higher corticalfunctions and intelligence.The clinical characteristics of this anomaly are numerous. They range from asymptomatic cases, with normal intellectual capacity, to severe mental retardation. Radiological and genetic markers cannot make a difference between the asymptomatic and symptomatic characteristics of the disease. Therefore, it is very difficult to give genetic advice if the diagnosis is made prenatally. This part of the central nervous system is very well visualized by ultrasonic examination, thus in the absence of corpus callosum a special attention must be paid to other parts of the central nervous system, for diagnosing associated anomalies. If the diagnosis of agenesis of corpus callosum is made prenatally by ultrasound, a MR examination is advised for diagnosing other anomalies, especially in the central nervous system like lissencephalia, schizocephalia or heterotopia of the gray matter, where MR examination is superior to others.

N Z Dent J. 2003 Mar; 99(1): 5-9
Kieser J, Townsend G, Quick A

Down syndrome (DS) is an autosomal chromosomal anomaly which results from trisomy of all or part of chromosome 21. It is the single most common genetic cause of mental retardation affecting approximately 1 in 700 live births. Since its first description in 1866 by John Langdon Down, much research has focused on this condition. In the past two decades there has been a significant increase in information about its causes, diagnosis and medical and dental consequences. In this, the first of two articles, we pay tribute to the work of Harvey Brown, and we review the pathogenesis, general and cranio-dental features of Down Syndrome. The cause of DS is usually non-dysjunctive trisomy 21, with 91 percent of cases being maternally derived. Uncommon causes are mosaicism or translocation from other chromosomes. DS patients suffer from congenital cardiopathies, growth retardation, endocrinopathies, sleep apnoea, neoplasias and early-onset Alzheimer's disease. Typically, craniofacial features include midfacial hypoplasia with a resultant flattened face, ocular hypotelorism and mandibular prognathism. The universal characteristic of the DS face is the upward slanting of the palpebral fissures and epicanthic folds. Dental features include tooth size reduction, hypodontia, reduced root lengths, changes in tooth shape and excessive tooth wear.

Brain Dev. 2003 Mar; 25(2): 84-101
Pies NJ, Beardsmore CW

The British surgeon William James West has not left a tremendous literary or scientific work as many of his contemporaries did. For this reason only a little has been known about him and the fate of his family for decades, even though the eponym was created in the 1960s. Only in 1990 was a first biography published and later on supplemented. If his son had not suffered from the syndrome, which later on was named after him, he would not have published the first description of the West syndrome in The Lancet in 1841. Possibly we would be talking about Newnham's syndrome, because 8 years later he published a detailed report on this subject. There is, however, a second aspect concerning the pioneering activity of West, i.e. his advocating of ovariotomy in its early days. To judge the importance of this feat correctly, it is necessary to keep in mind that his former pupil and practice-partner Gorham in 1874 obviously tried to exaggerate the role of West in ovariotomy. Nevertheless, it is worth keeping the memory of William James West and his son James Edwin alive, as happened at the International Symposium on West Syndrome and Other Infantile Epileptic Encephalopathies at Tokyo, 9-11 February in 2001, and by other occasions.

Downs Syndr Res Pract. 1999 Aug; 6(1): 19-24
Ward OC

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.

Arch Dis Child. 1999 Aug; 81(2): 195C
Dunn PM

Arch Pathol Lab Med. 1999 Feb; 123(2): 102
Jay V

Arch Dis Child. 1991 Nov; 66(11): 1367
McKinlay I

Arch Dis Child. 1991 Jul; 66(7 Spec No): 827-8
Dunn PM