1/16. Syntax PAL: a system to improve the written syntax of language-impaired users.In our work with children who have difficulty with spelling or with the physical action of writing, we have found a number of children who also have difficulty with written grammar. As an extension of PAL, an existing predictive spelling and typing aid, we have developed a writing aid to help these children with sentence construction. The enhanced system uses the syntax of the initial part of a sentence to enhance the position in the prediction list of syntactically correct words. It was postulated that this would discourage the use of incorrect syntax and encourage the use of correct syntax. In two case studies, the use of Syntax PAL significantly improved the quality and quantity of one child's written output, but had little effect on the other child's work.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/16. Identification and evaluation of mental retardation.Mental retardation in young children is often missed by clinicians. The condition is present in 2 to 3 percent of the population, either as an isolated finding or as part of a syndrome or broader disorder. Causes of mental retardation are numerous and include genetic and environmental factors. In at least 30 to 50 percent of cases, physicians are unable to determine etiology despite thorough evaluation. diagnosis is highly dependent on a comprehensive personal and family medical history, a complete physical examination and a careful developmental assessment of the child. These will guide appropriate evaluations and referrals to provide genetic counseling, resources for the family and early intervention programs for the child. The family physician is encouraged to continue regular follow-up visits with the child to facilitate a smooth transition to adolescence and young adulthood.- - - - - - - - - - ranking = 3.8087277091907keywords = physical examination, physical (Clic here for more details about this article) |
3/16. A case of mosaic trisomy 21 with Down's syndrome signs and normal intellectual development.The present case study describes an adult male with clinical signs of mild Down's syndrome (DS), who performed well at school and reached university level. A karyotype was done on a lymphocyte culture and mosaic trisomy 21 was found in 3% of the 437 cells analysed. Eleven signs from Jackson's checklist were found in the clinical evaluation, which along with the analysis of the subject's dermatoglyphic traits, confirmed the DS diagnosis. Cognitive evaluation was done with several psychological tests and the results were within the average range. This rare phenotypic association shows that normal intellectual development may be possible in DS. This finding could be explained by the low trisomic cell frequency, which may have little effect on the critical tissues for intellectual development, and it might also reflect the wide phenotypic variation in mosaic trisomy 21. Other factors, such as strong family support, early and continued intervention programmes for both physical and speech therapy, and a thorough educational process, also provided opportunities for the development of the cognitive potential of the subject.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/16. An infant with down syndrome and retinoblastoma. A possible non-fortuitous association.AIM: To evaluate the association between down syndrome and retinoblastoma. METHOD: Presentation of a case report and review of the literature. RESULTS: A retinoblastoma was observed in a 10-month-old boy with down syndrome. A review of the literature yielded 14 other cases, suggesting a possible excess of retinoblastoma in down syndrome, as previously proposed by two epidemiological studies. The possible roles of external physical agents and hyperplastic and dysplastic lesions of the retina in subjects with down syndrome is discussed. CONCLUSION: A positive association between down syndrome and retinoblastoma is possible. An epidemiological study on this subject is needed to better ascertain this potential link.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/16. Orthodontic treatment in handicapped children: report of four cases.Mentally and physically handicapped children show in the orofacial system motor-sensitivity disturbances and malocclusions of varying severity. These dysfunctions affect the breathing and speech ability and inhibit the food intake. Myotherapeutic exercises for strengthening of lip and tongue muscles and orthodontic treatment of the malocclusions help provide esthetic and functional improvements in these patients. The limited compliance necessitates a differentiated procedure during the diagnostic and therapeutic process and demands compromises in some cases.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/16. Use of dental implants in patients with down syndrome: a case report.down syndrome is caused by trisomy of the 21st chromosome and is associated with well-described physical and systemic problems. Most people with down syndrome have some degree of mental retardation as well as malformation of head and neck. Oral structures that are commonly affected include the tongue (macroglossia), abnormalities in the number and shape of teeth, and poor quality (osteoporotic-like) of alveolar bone and jaw. These oral malformations as well as a tendency toward poor cooperation in the dental office contribute to the belief among dentists that people with down syndrome are not good candidates for oral rehabilitation with dental implants. This article describes the use of dental implants in the oral rehabilitation of a 16-year-old boy with down syndrome. Although more experience is needed before dental implants can be considered a suitable option during oral rehabilitation in people with down syndrome, this case report shows a promising beginning.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/16. Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the down syndrome critical region.We report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically. A clinical diagnosis could not be made in the propositus, but facial anomalies of down syndrome (DS) were recognized in the maternal uncle of the propositus. In view of a strong family history of recurrent miscarriage, a familial translocation was highly suggestive. Standard cytogenetic analysis did not reveal any abnormalities. fluorescence in situ hybridization (FISH) using subtelomeric dna probes identified a familial cryptic translocation of chromosomes 18 and 21, resulting in partial trisomy 21 and partial monosomy 18q in both patients. FISH analysis of obligate carriers demonstrated a balanced translocation between the terminal parts of 18q and 21q. Including this family, a total of six different familial cases with cryptic or subtle subtelomeric translocations of chromosome 21q has been reported, of which three involved terminal parts of chromosome 18q. The remarkable similarity of the chromosomal breakpoints of our patients and the described families prompted us to refine the breakpoints and to discuss phenotypic differences between these patients. Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/16. Epidemic Norwegian scabies.Norwegian scabies is an ectoparasitic infestation by sarcoptes scabiei, characterized by hyperkeratotic lesions of the hands, feet, ears, and scalp, which contain many mites. An epidemic of Norwegian scabies involved 22 patients in a 25-patient ward of mentally and physically handicapped persons (mostly mongoloids). The pathogenesis of the prolific mite population is unclear, but either a specific immunologic deficit or the inability to effectively eliminate the mites by scratching is a plausible possibility.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/16. Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.Partial trisomy of the distal portion of the long arm of chromosome no. 21, resulting from a (familial) translocation between the chromosomes no. 19 and 21 in a female twin with Down's syndrome, supports the hypothesis that triplication of 21q22 is the cause of the physical signs of mongolism. Partial trisomy of the remaining segments of chromosome no. 21 due to a (familial) translocation between the chromosomes no. 4 and 21, however, may only cause mental deficiency.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/16. trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter leads to 12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first-cousin (No. 9) were balanced translocation carriers, 46 rep (12;21) (p12.1;p11). Another cousin (No. 10) had down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers. Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
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