1/78. teaching partner-focused questions to individuals who use augmentative and alternative communication to enhance their communicative competence.A single-subject, multiple-probe experimental design was used to investigate the effect of instruction on the acquisition, generalization, and long-term maintenance of partner-focused questions (i.e., questions about communication partners and their experiences) by individuals who use augmentative and alternative communication (AAC). Six participants who had severe speech impairments and used AAC participated in the study; they ranged in age from 10 to 44 years, had a variety of disabilities, and used a range of AAC systems. Instruction used a least-to-most prompting hierarchy in real-world interactions and during simulations. All of the participants successfully learned to ask partner-focused questions spontaneously in social interactions; they required an average of approximately 6 hours of instruction (range: 3-11 hours). The participants generalized the use of partner-focused questions to new situations in the natural environment and maintained use of partner-focused questions at least 2 months postinstruction; one participant required some "booster" instructional sessions 4 weeks postinstruction to maintain her long-term use of partner-focused questions. The participants all reported high levels of satisfaction with the outcomes of the instructional program, as did their facilitators. Members of the general public, blind to the goals of the study, judged the majority of the participants to be more competent communicators after instruction.- - - - - - - - - - ranking = 1keywords = impairment (Clic here for more details about this article) |
2/78. Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease.We report a pair of monozygotic Huntington's disease (HD) twins who, although sharing identical CAG repeat lengths, not only present with marked differences in clinical symptoms but also behavioral abilities as measured by our experimental procedures. Both HD twins and two healthy control subjects were tested twice over 2 years. Patient A was generally more impaired at a motor level, whereas Patient B showed greater attentional impairment; Patient B, however, showed more progressive deterioration. The control subjects' performance remained consistent over the 2-year interval. Patient A clinically had the more hyperkinetic hypotonic variant of the disease, whereas Patient B, who was the more impaired, presented with a more hypokinetic hypertonic (rigid) variant. The influences of epigenetic pre- and postnatal environmental factors should not be ignored.- - - - - - - - - - ranking = 1keywords = impairment (Clic here for more details about this article) |
3/78. A case of Lafora's disease associated with cardiac arrhythmia.Progressive myoclonic epilepsies are rare, genetically transmitted diseases characterized by epileptic seizures, myoclonus, and progressive neurologic deterioration. Unverricht-Lundborg disease, Lafora's disease, neuronal ceroid lipofuscinosis, mitochondrial disorders, and sialidosis are included in this group. Lafora's disease is a progressive disorder of the central nervous system with onset in the late first or second decade of life and is inherited in an autosomal-recessive pattern. The first clinical manifestation is generalized tonic-clonic seizures, myoclonus, or both, usually seen between the ages of 11 and 18 years. The other clinical manifestations are progressive dementia and limb ataxia. diagnosis is based on showing the typical inclusions in the brain, liver, skin, or muscle tissue specimens. The case of a 6-year-old male patient, who was admitted with the clinical findings of third-degree atrioventricular block and dementia and eventually diagnosed with Lafora's disease, is presented.- - - - - - - - - - ranking = 0.10278770975075keywords = ataxia (Clic here for more details about this article) |
4/78. Worster-Drought and congenital perisylvian syndromes-a continuum?A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction of the limbs was noted. On follow-up, the child experienced two episodes of seizures at 6 years of age. magnetic resonance imaging of the brain demonstrated perisylvian and frontal polymicrogyria. Clinical and radiologic findings demonstrated a similarity and continuum between congenital suprabulbar paresis (Worster-Drought syndrome) and perisylvian syndrome.- - - - - - - - - - ranking = 14.929535299keywords = coordination (Clic here for more details about this article) |
5/78. Palilalia and repetitive speech: two case studies.Palilalia, a disorder of speech characterized by compulsive repetitions of utterances has been found in various neurological and psychiatric disorders. It has commonly been interpreted as a defect of motor speech. This article describes palilalia and other variants of verbal repetitive behavior, such as monosyllabic iterations and conduite d'approche. The clinical features of palilalia, its prevalence in different language tasks, and the individual patterns of verbal repetitive behavior are illustrated in two patients with a long-standing cerebrovascular disease. An attempt is made to locate the origin of different forms of verbal repetitions in a standard model of speech production (Butterworth, 1980a; Garrett, 1980; Levelt, 1989) by analysis of their morphology and correlation with impairments of lexical or phonological processes. From these observations it is suggested that palilalia results from control malfunctions at the level of the Articulator, whereas other variants of pathological verbal iterations result from an impairment of the Formulator or from malfunctions of both the Articulator and the Formulator.- - - - - - - - - - ranking = 2keywords = impairment (Clic here for more details about this article) |
6/78. Persistent cerebellar symptoms after infection with mycoplasma pneumoniae.mycoplasma pneumoniae infection in a 47-year-old man is reported. Symptoms of upper respiratory tract infection were followed by pneumonia and meningoencephalitis. In contrast to published cases with neurological manifestations of infection with M. pneumoniae, the patient was disabled by persistent cerebellar symptoms with generalized ataxia and atactic dysarthria. Some possible pathogenic mechanisms of the neurological manifestations of infection with M. pneumoniae are considered.- - - - - - - - - - ranking = 0.10278770975075keywords = ataxia (Clic here for more details about this article) |
7/78. Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.We present a 9.1-year-old girl of Calabrian (italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with delayed bone age and speech delay) suggesting the diagnosis of Floating-Harbor syndrome (FHS). physical examination showed: height 113.9 cm (-2.9 SD), with a parent's target of 156.2 cm ( 1.0 SD), weight 20.7 kg, BMI 16.0 (-0.04 SD), and many phenotypic abnormalities: long eyelashes, large bulbous nose with broad nasal bridge, short philtrum, moderately broad mouth, tooth folding and malocclusion, posteriorly rotated ears, low posterior hair line, short neck, clinodactyly of the 5th finger and hyperextensible finger joints. Diffused hyperpigmentation and hypertrichosis with sporadic pubic terminal hairs, but neither clitoromegaly nor other signs of hyperandrogenism and/or precocious puberty, were observed (T1, P1). Carpal bone evaluation showed a delayed bone age (TW2: 5-5/10, - 3.6 yr) and the statural age/bone age ratio was 1.1. Other dysmorphic syndromes were excluded on the basis of clinical evidence, also evaluated by a computer-assisted search (P.O.S.S.U.M. version 3.5, 1992). Analysis of chromosome 22 by the FISH method, using specific probes Cos29 and Tuple1, excluded microdeletions in the region 22q11.2, typical of Velo-cardio-facial syndrome. In this case, we report the impairment of serum GH responsiveness (GH baseline values: 0.2-1.9 ng/ml) to the administration of oral 150 microg clonidine [peak 4.7 ng/ml, normal values (nv)>10 ng/ml] and oral 4 mg dexamethasone (8.1 ng/ml, nv>10 ng/ml). Moreover, the evaluation of spontaneous 24-h GH secretion (Carmeda AB, Stockholm, sweden) showed low mean GH levels (1.75 ng/ml, nv>3.0 ng/ml), with a maximum sleep-related peak of 2.8 ng/ml. serum IGF-1 values were in the low-normal range (80-176 ng/ml, nv 133-626 ng/ml). While in FHS the cranio-facial features minimize with advancement of age, the impairment of growth velocity is permanent and results in severe dwarfism. In our case, treatment with recombinant GH (0.10 U/kg/day), administered by a needle-free device, induced a dramatic increase of growth velocity, increasing the height from -2.8 to -1.9 SD after 18 months, thus indirectly confirming a role of GH deficiency in the pathogenesis of FHS dwarfism.- - - - - - - - - - ranking = 2keywords = impairment (Clic here for more details about this article) |
8/78. rehabilitation outcome in a patient awakened from prolonged coma.BACKGROUND: This article describes the rehabilitation of a patient recovering from a prolonged coma (defined as lasting longer than 4 weeks). The case is noteworthy because it exemplifies the possibilities and difficulties entailed in treating these patients, who are often regarded as too severely impaired to justify intensive rehabilitation efforts. CASE REPORT: The patient is a 28-year old Polish male, unmarried, who suffered serious closed head injuries in an automobile accident in April of 1999. He was in a comatose state for more than two months, with a GCS score of 5. When admitted for rehabilitation he was bedridden, with global aphasia, agraphia, limb apraxia, and executive dysfunction. The rehabilitation program developed for him is described in detail. RESULTS: Over the course of rehabilitation, which began in December 1999 and continues to this writing, the patient has regained locomotion capabilities (though with impairments), and his speech has improved considerably. The apraxia has largely resolved, and he is able to write his name and copy words. He is now capable of performing many activities of daily living. CONCLUSIONS: A comprehensive program of rehabilitation characterized by a strategic, heuristic approach is capable of achieving a good outcome even in very difficult cases, such as prolonged coma.- - - - - - - - - - ranking = 1keywords = impairment (Clic here for more details about this article) |
9/78. Cineradiographic assessment of articulatory mobility in the dysarthrias.This paper describes cineradiographic techniques for the assessment of articulatory mobility in dysarthric subjects. Sample data for the mobility ranges of articulatory points on the tongue, lower lip, and jaw are presented for four normal speakers and four dysarthric speakers. In addition, fleshpoint displacements during the articulatory movements of the dysarthric subjects are used to illustrate abnormalities in the range, rate, and direction of speech movements. Discussion of the point-parameterized cineradiographic data emphasizes possibilities for the clinical evaluation of dysarthric impairments.- - - - - - - - - - ranking = 1keywords = impairment (Clic here for more details about this article) |
10/78. X-linked nonspecific mental retardation. Report of a large kindred.A seven-generation pedigree of apparent X-linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals studied.- - - - - - - - - - ranking = 14.929535299keywords = coordination (Clic here for more details about this article) |
| | Next -> |