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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The features of the Brachmann-de Lange syndrome are characteristic enough for diagnosis to be made at birth. It is associated with severe physical and mental retardation and its aetiology is obscure, but the syndrome may be heterogenous. Several cases in siblings have been reported, but the case described here appears to be sporadic.
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PMID:The Brachmann-de Lange syndrome. A case report. 674 Apr 34

One hundred twenty-two patients with clinically confirmed Brachmann-de Lange syndrome (BDLS) were evaluated developmentally. Recruitment was made from our genetics department and through meetings of the Cornelia de Lange Syndrome Foundation parent support group. Developmental information was obtained from records of physicians, schools and developmental centers, or from parents on each of the 122 individuals, allowing division into four groups for study: group 1 (n = 48) underwent formal developmental assessments, which generated intelligence or developmental quotients, and had a completed parental questionnaire with specific developmental questions regarding ages of skills mastered; group II (n = 23) had additional developmental records available without formal testing, as well as the questionnaire; group III (n = 22) had only a completed questionnaire; and group IV (n = 29) had formal developmental testing or other developmental records but no available questionnaire. These data were analyzed in order to be able to predict attainable psychomotor development. Average scores on formal testing were found to be in the mild to moderate level of mental retardation, ranging from below 30 to 85, with an average intelligence quotient of 53, higher than previously reported. Visual-spatial memory and perceptual organization skills were found to be strengths. Younger individuals born before 1980 demonstrated higher scores on testing. Early intervention appears to play a major role in the level of developmental achievement.
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PMID:Developmental data on individuals with the Brachmann-de Lange syndrome. 750 92

Brachmann-de Lange syndrome (BDLS) is a rare multiple congenital anomaly/mental retardation (MCA/MR) syndrome with variable expression, making diagnosis of mild cases difficult. The most consistent manifestations appear to be the characteristic face, which can be subtle in children who are mildly affected [Ireland and Burn, 1991: Twelfth Annual David W. Smith Workshop on Malformations and Morphogenesis]. Other aspects of the syndrome include variable degrees of mental retardation, growth retardation, structural abnormalities of the limbs, and behavior abnormalities, noted to be "autistic" [Jones, 1988: "Smith's recognizable patterns of human malformation"]. Johnson et al. [1976: Pediatr Res 10:843-850] described a behavior phenotype felt to be common in patients with BDLS. They predicted that patients with BDLS may respond to "behavioral intervention". Other behavior abnormalities in BDLS have been reported [Barr et al., 1971: Neuropadiatrie 3:46-66; Hawley et al., 1985: Am J Med Genet 20:453-459]. We report on a 6-year-old boy with the facial characteristics of BDLS, normal birth weight, prenatal onset of a small head relative to length, postnatal onset growth deficiency, nearly normal psychomotor development with onset of clear developmental delays by 2 years. He developed behavior problems similar to those seen in other patients with BDLS. These behaviors are most consistent with Pervasive Development Disorder-NOS (PDD), and Autistic Disorder [DSM-III-R, 1987] which encompasses a spectrum of mild to severe autistic behaviors. We report successful in-patient care utilizing medical and behavioral techniques to reduce the frequency of the behaviors. We feel that the presence of the characteristic behaviors may be helpful in confirming the diagnosis of BDLS.
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PMID:Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy. 750 94

We report on a family in which a girl and a boy in the same sibship show variable manifestations of a less severe type of Brachmann-de Lange syndrome without significant prenatal growth deficiency and reduction deformities of the forearms. Both parents are healthy and phenotypically normal, and no other family members are affected. All the affected sibs except one described so far with normal parents presented the severe type of Brachmann-de Lange syndrome (now sometimes classified as type I: "classic" or "full" Brachmann-de Lange syndrome), with major upper limb anomalies, severe growth and mental retardation and, frequently, early death. We discuss the possible role of genomic imprinting in the etiology of this syndrome.
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PMID:A further report of Brachmann-de Lange syndrome in two sibs with normal parents. 755 68

Self-injury/self-mutilation behaviors often are associated with organic conditions, such as mental retardation, encephalitis, Lesch-Nyhan disease, de Lange syndrome, Tourette's syndrome, acute intoxication, Addison's disease, and various behavioral and personality disorders. Among the many reasons why individuals resort to self-injury/self-mutilation are to reduce tension, the communication of intense or depressive emotions, dissociative experiences, or to gain control of earlier traumatic experiences through reenactment. The treatment of clients who engage in self-injury/self-mutilation must focus on improving communication skills, raising self-esteem, identifying support persons and groups, and eliminating positive and negative reinforcement.
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PMID:Self-injury and self-mutilation. Nursing approaches. 776 71

Cornelia de Lange syndrome is a congenital malformation characterized by severe growth failure, mental retardation, and multiple physical anomalies. A variety of gastrointestinal anomalies have been described, including malrotation, colonic duplication, and nonfixation of the colon. Two patients with Cornelia de Lange syndrome presented to our institution with acute distal bowel obstruction. In both cases, emergency laparotomy showed cecal volvulus with necrosis of the terminal ileum, cecum, and ascending colon, secondary to nonfixation of the colon. Resection and an end-ileostomy were performed and later successfully reversed in both patients. Intestinal obstruction is a known cause of death in these children, and nonfixation of the colon has been identified during autopsy. Parents of children with Cornelia de Lange syndrome should be counseled as to the possibility of bowel obstruction resulting from cecal volvulus. This awareness may lead to earlier identification and treatment of this potentially lethal gastrointestinal tract anomaly.
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PMID:Cecal volvulus in the Cornelia de Lange syndrome. 780 58

Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups.
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PMID:Variability of the Brachmann-de Lange syndrome. 829 40

Severe mental retardation is the most handicapping disability for individuals with Brachmann-de Lange syndrome (BDLS). Reports of higher functioning patients with suspected BDLS have invariably described those with a "mild" BDLS somatic phenotype. Here we report on 2 high-functioning females, ages 3.7 and 10.6 years, with the classic BDLS somatic phenotype, i.e., all growth parameters at 4-5 standard deviations below the mean prenatally and postnatally. These 2 patients serve to extend the spectrum of classic BDLS to include cognitive function in the mild-to-moderate range of mental retardation.
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PMID:Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome. 829 42

We describe 4 patients with facial changes of Brachmann-de Lange syndrome but without limb defects. Mental retardation ranged from moderate to severe and the degree of prenatal and postnatal growth deficiency was variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Branchmann-de Lange phenotype. The relationship of the mild phenotype to the full syndrome will not be understood until the pathogenetic or causal factor(s) are delineated.
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PMID:Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. 829 44

The recognizable patterns of human malformations have recently received much attention, particularly because of the decline of other diseases. Patients with a congenital malformation syndrome come to the Child Neuropsychiatrist for various reasons, such as: mental retardation of variable degree, learning disabilities, speech delay or absence of speech, behaviour disorders, various neurological impairment. Parents, however, seem to be mainly concerned about the prognosis of cognitive and psychological aspects. We have studied 83 patients with a specific pattern of malformations (35 affected by the Sotos syndrome; 25 by the Williams syndrome; 9 by the Cohen syndrome; 8 by the Cornelia De Lange syndrome; 6 by the Rubinstein-Taybi syndrome) and have particularly investigated their cognitive and psychological profiles. 13/83 showed a normal cognitive level (9 Sotos syndrome; 4 Williams syndrome), while 70/83 showed a cognitive deficit ranging from mild-moderate (56 cases) to moderate-severe (14 cases). Linguistic deficits are prominent in the Sotos, Cornelia De Lange, and Rubinstein-Taybi patients, while practo-gnosic deficits are frequent in the Williams and particularly in the Cohen syndrome patients. The personality structure is characterized by immaturity and anxiety in all but the Williams syndrome patients, where some peculiar neurotic traits may be observed. All patients showed good communicative abilities.
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PMID:[Cognitive and psychological profiles in dysmorphic syndromes]. 841 90


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