11/32. A familial complex chromosome translocation resulting in duplication of 6p25.We report on a girl with psychomotor retardation, severe speech developmental delay and mild dysmorphic features. Molecular cytogenetic analysis showed that the patient was carrier of an insertion (6)(p22.5-->22.4) in chromosome 12. Analysis of the chromosomes of the mother revealed the presence of a complex chromosomal rearrangement. In addition to the insertion (6)(p22.5-->22.4) in chromosome 12 and a pericentric inversion in chromosome 12, the 6p subtelomeric region was absent in the mother. This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
12/32. An unusual case of monosomy 18p: minor malformations with speech delay.An unusual case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation who had mild speech delay and normal motor development is presented. A 3.5-year-old boy with complaints of speech delay, open mouth and drooling saliva was the child of a 33-year-old healthy mother and 35-year-old nonconsangineous father with unremarkable prenatal history. Beside delayed speech, hyperactive movements, flat nasal bridge, prominent ears, micrognathia, hypotonia, and overriding of left 3rd the on 2nd toe were present. Cytogenetic studies revealed de novo 45,XY del (18) t(18;21)-21 karyotype, which was confirmed by fluorescence in situ hybridization (FISH).- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
13/32. Speech and language delay are early manifestations of juvenile-onset huntington disease.The neurocognitive features of juvenile-onset huntington disease (HD) are not well understood. We present three patients with onset of HD symptoms before age 10 years in whom speech delay was the first symptom. Speech delay predated motor symptoms by at least 2 years, and language function was consistently impaired on formal testing. Screening for speech delay is particularly important in children with a family history of HD.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
14/32. Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.A child with the distinguishing characteristics of Weissenbacher-Zweymuller syndrome (WZS), a rare syndrome characterized by multiple skeletal and radiological abnormalities, dwarfism and developmental delays, was followed from birth to eight years. Follow-up showed that the radiographic anomalies eventually disappeared, and that height, motor, cognitive and language development returned to normal by eight years of age. The child's normal development at school age supports the theory that WZS is a dysmaturational, rather than dysplastic, syndrome. diagnosis of the syndrome at birth is essential to ensure proper management of the child and counselling for the parents.- - - - - - - - - - ranking = 5keywords = motor (Clic here for more details about this article) |
15/32. A minority perspective in the diagnosis of child language disorders.The effective diagnosis and treatment of persons from diverse minority language backgrounds has become an important issue in the field of speech and language pathology. Yet, many SLPs have had little or no formal training in minority language, there is a paucity of normative data on language acquisition in minority groups, and there are few standardized speech and language tests appropriate for these groups. We described a diagnostic process that addresses these problems. The diagnostic protocol we have proposed for a child from a Black English-speaking background characterizes many of the major issues in treating minority children. In summary, we proposed four assessment strategies: gathering referral source data; making direct observations; using standardized tests of non-speech and language behavior (cognition, perception, motor, etc.); and eliciting language samples and probes.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
16/32. Facilitating conversation through self-initiated augmentative communication treatment.We examined the conversational skills of 2 adult males with severe motor and speech deficits resulting from cerebral palsy. A multiple baseline design across subjects was used to determine the effectiveness of an intervention strategy designed to teach them to use an augmentative communication system (touch Talker) independently. The dependent measure was the number of conversation initiations relative to conversation reactions during spontaneous communication across baseline and treatment. The treatment included specific training on using the augmentative system to participate in communication. Once the intervention began, the production of conversation initiations accelerated at a rapid rate. The treatment program was effective in training the subjects to use the augmentative system to increase conversation participation. These results demonstrate that training on the operation of the device alone is not sufficient to ensure improvement in conversation performance, and that it is important to incorporate direct conversational treatment when providing instruction on the use of augmentative communication systems for severely speech-impaired individuals.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
17/32. rett syndrome: a longitudinal developmental case report.rett syndrome is a recently described progressive neurological disorder of unknown etiology occurring only in females, causing severe to profound mental retardation and characterized by loss of purposeful hand use and stereotypic hand movements. The present study examined development in five areas: gross motor skills, fine motor skills, self-help skills, communication, and cognition. Results indicated a general stagnation in all developmental areas beginning at approximately 15 months. No skills progressed beyond the 2-year level; this, despite several years of intensive, interdisciplinary intervention. Cognitive and communication skills regressed, then stabilized for several years, and subsequently began further regression. Gross motor and self-help skills appear to be areas of relative strength.- - - - - - - - - - ranking = 3keywords = motor (Clic here for more details about this article) |
18/32. brain plasticity as a basis for recovery of function in humans.One of the factors leading to the virtual neglect of the long-term potential for functional recovery following brain damage was the eclipse of plasticity concepts during the 100 years following Broca's 1861 publication on location of function. However, in the last 30 years evidence has been accumulating that demonstrates the plasticity of the brain and thus recovery potential is a subject of practical as well as theoretical interest. "Unmasking" of relatively inactive pathways, the taking over of functional representation by undamaged brain tissue, and neuronal group selection are among the mechanisms that are being explored. Human models of recovery of function include hemispherectomy patients that have regained bilateral function, facial paralysis patients who recover function (with appropriate rehabilitation) after VII-XII cranial nerve anastomosis, and patients with muscle transpositions to re-establish lost motor functions. The role of early and late rehabilitation, with attention to psychosocial and environmental factors, appears to be critical for recovery.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
19/32. Concurrence of congenital ocular motor apraxia and other motor problems: an expanded syndrome.The records of all cases of congenital ocular motor apraxia diagnosed by the ophthalmology Department at the Children's Hospital, boston, over the past 25 years were reviewed to ascertain other problems with motor organization. There were eight boys and two girls, ranging in age from eight months to 2 1/2 years at diagnosis. Eight of the 10 had evidence of oral motor planning problems which significantly affected their speech output. Five had evidence of awkwardness or clumsiness, suggesting difficulties with gross motor organization as well. This concurrence of motor planning problems in at least two spheres, ocular motor and oral motor, suggests more general difficulties with motor organization in this syndrome. In all cases for whom data were available the ocular motor problems resolved but oral motor problems persisted.- - - - - - - - - - ranking = 18keywords = motor (Clic here for more details about this article) |
20/32. 47,XXX: what is the prognosis?Eleven unselected 47,XXX girls, now 15 to 22 years of age, have been observed from birth in a prospective study of children with sex chromosome anomalies. A description of their growth and development is presented. The 47,XXX infants were not generally distinguishable from chromosomally normal children in the first year of life, even though there was a slight delay in neuromotor development. By 2 years of age, developmental delays in speech and language often became evident, and speech therapy was often necessitated in the preschool years. Early school problems included speech and language deficiencies, lack of coordination, poor academic performance, and immature behavior; these persisted throughout the school years. By high school age, a 47,XXX girl was generally tall and often subject to somatic complaints. sexual development was generally normal. Seven of the 11 propositae had a diagnosed psychiatric disorder or disturbance at some time during adolescence. Variability within this syndrome is great; one proposita is in college and another is mentally retarded. The frequency of the diagnosis of the 47,XXX karyotype by genetic amniocentesis is estimated to be 1/1000, the same incidence as in the newborn population. Expectant parents must be counseled as to the significance of this karyotype and prognostic information must be given. Suggested guidelines are included.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
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