1/91. White matter dementia in cadasil.Cerebral white matter disorders may be associated with profound neurobehavioral dysfunction. We report a 62-year-old man who had a slowly progressive 25-year history of personality change, psychosis, mood disorder, and dementia. neurologic examination disclosed abulia, impaired memory retrieval, and preserved language, with only minimal motor impairment. Neuropsychological testing found a sustained attention deficit, cognitive slowing, impaired learning with intact recognition, and perseveration. magnetic resonance imaging of the brain revealed extensive leukoencephalopathy. Right frontal brain biopsy showed ill-defined white matter pallor with hyaline narrowing of white matter arterioles. Granular osmiophilic material adjacent to vascular smooth muscle cells on electron microscopy of a skin biopsy, and an arginine for cysteine replacement at position 169 in the 4 EGF motif of the notch 3 region on chromosome 19q12 established the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). This case illustrates that cadasil can manifest as an isolated neurobehavioral disorder over an extended time period. The dementia associated with cadasil closely resembles that which may occur with other white matter disorders, and represents an example of white matter dementia.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
2/91. Longitudinal neuropsychological evaluation of a case of pineal tumor occurring in an adolescent girl.There has been a relative absence of studies that have longitudinally examined the neuropsychological profiles of patients suffering from pineal tumors. A case is reported of an adolescent girl with a pineoblastoma and spinal metastases who received extensive chemotherapy and cranio-spinal irradiation. Neuropsychological assessments conducted approximately 5 months and 2.5 years posttumor diagnosis revealed a diversity of impairments indicative of mild to moderate neuropsychological dysfunction. By the 2nd evaluation (2 years postbaseline) there was evidence of increased neurocognitive impairment suggestive of greater dysfunction of the patient's right, versus left, cerebral hemisphere. overall, the patient's neuropsychological profile coincided with the syndrome of Nonverbal learning Disabilities as proposed by Rourke and his colleagues (Rourke, 1987, 1988, 1995; Rourke & Tsatsanis, 1996). These findings are discussed in light of the syndrome of Nonverbal learning Disabilities (and the related white matter model) and the possible negative impact of the patient's pineal tumor and subsequent chemotherapy and cranio-spinal irradiation on her neuropsychological functioning.- - - - - - - - - - ranking = 0.050811935402677keywords = ring (Clic here for more details about this article) |
3/91. Relation between heart rate and problem behaviors.A new methodological approach for understanding self-injury, aggression, and property destruction exhibited by individuals with severe developmental disabilities was evaluated in this descriptive study. Measures of heart-rate changes before, during, and after episodes of problem behavior were obtained in real time. Unique patterns of heart rate and problem behavior were documented for each participant. heart rate, identified as an indicator of negative arousal, was reliably associated with higher scores of perceived distress. These results indicate that further research is needed to examine the link between problem behavior and physiology. The study also suggests that physiological measurement can be included in the functional assessment process to further our understanding of the mechanisms underlying problem behavior.- - - - - - - - - - ranking = 0.010162387080535keywords = ring (Clic here for more details about this article) |
4/91. A child with reading impairment and a family history of adrenoleukodystrophy.The clinical course of a 6-year-old boy with adrenoleukodystrophy (ALD) who underwent allogeneic stem-cell transplantation during an early clinical stage is described. Twenty-three months after transplant, he remains neurologically stable, but with moderate neurological sequelae; the serum very long chain fatty acid profile has improved, but not normalized. The indications, mechanism of action, and complications of bone marrow transplantation in ALD are discussed briefly, along with other potential therapies.- - - - - - - - - - ranking = 0.010162387080535keywords = ring (Clic here for more details about this article) |
5/91. A school-aged child with delayed reading skills.During a health supervision visit, the father of a 7.5-year-old African American second-grader asked about his son's progress in reading. He was concerned when, at a recent teacher-parent conference to review Darren's progress, the teacher remarked that Darren was not keeping up with reading skills compared with others in his class. She said that he had difficulty sounding out some words correctly. In addition, he could not recall words he had read the day before. The teacher commented that Darren was a gregarious, friendly child with better-than-average verbal communication skills. His achievement at math was age-appropriate; spelling, however, was difficult for Darren, with many deleted letters and reversals of written letters. A focused history did not reveal any risk factors for a learning problem in the prenatal or perinatal periods. Early motor, language, and social milestones were achieved on time. Darren had not experienced any head injury, loss of consciousness, or chronic medical illness. He had several friends, and his father denied any behavioral problems at home or at school. His teacher completed a DSM-IV-specific behavioral survey for attention-deficit/hyperactivity disorder (ADHD). It did not show any evidence of ADHD. Darren's father completed 1 year of college and is currently the manager of a neighborhood convenience store. His mother had a high school education; she recalled that she found it difficult to complete assignments that required reading or writing. She is employed as a waitress. Darren does not have any siblings. The pediatrician performed a complete physical examination, the results of which were normal, including visual acuity, audiometry, and a neurological examination. It was noted that Darren seemed to pause several times in response to questions or commands. On two occasions, during finger-nose testing and a request to assess tandem gait, directions required repetition. overall, he was pleasant and seemed to enjoy the visit. His pediatrician concluded that he had a learning problem but she was uncertain about the next step. She asked herself, "Is there anything else I can do in the office to evaluate Darren's problem with learning? Should I quickly refer him for educational testing or encourage a reading tutor? What questions can I ask his teacher that would be helpful? Am I missing a medical disorder?"- - - - - - - - - - ranking = 0.020324774161071keywords = ring (Clic here for more details about this article) |
6/91. Mapping studies on a pericentric inversion (18) (p11.31 q21.1) in a family with both schizophrenia and learning disability.Chromosomal abnormalities that co-occur with psychiatric disorders can be useful direct pointers to the locus of susceptibility genes. Two families with pericentric inversions of chromosome 18, inv 18(p11.3 q21.1) and psychiatric illness have previously been described. We have fine mapped the chromosomal breakpoints of the rearrangement in a clinically well, inversion carrier from one of these families where other inversion carriers suffered from chronic schizophrenia or severe learning disability. Yeast artificial chromosomes (YACs) from the Whitehead/MIT physical maps of human chromosome 18 have been positioned relative to the chromosomal breakpoints and a number of YACs that span these breakpoints have been identified. Linkage and association studies have previously suggested these regions of chromosome 18q and 18p as candidate loci harbouring genes involved in bipolar disorder and schizophrenia.- - - - - - - - - - ranking = 4.0101623870805keywords = chromosome, ring (Clic here for more details about this article) |
7/91. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
8/91. Psychiatric inpatients and chromosome deletions within 22q11.2.Velocardiofacial syndrome (VCFS) is a congenital disorder characterised by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities due to a microdeletion of chromosome 22q11.2. Although VCFS is often associated with psychiatric symptoms, its prevalence among psychiatric patients is unknown. A total of 326 patients admitted in September and October 1997 to a Japanese psychiatric hospital were screened for the clinical features of VCFS. Twelve patients with minor facial dysmorphia were identified; chromosomal analysis with fluorescent in situ hybridisation (FISH) was performed in six patients who, further assessment suggested, were most likely to have VCFS. Chromosome 22q11.2 deletion was identified in a 41 year old woman who had symptoms of schizophrenia but no major dysmorphia, such as cardiovascular anomalies and cleft palate. Her behavioural and neuropsychological profiles were similar to those previously reported in VCFS. She was hemizygous for the FISH probe N25 (GDB locus D22S75) and also for probes N72H9 (D22S181), sc11.1a, C443 (D22S941), sc4.1 (D22S134), sc11.1b, N19B3 (D22S264), N122B5 (D22S934), and N77F7 (D22S939). The size of the deletion was about 3 Mb. Our patient had only some features of VCFS including a square nasal root, hypernasal speech, and hypoparathyroidism. She did, however, have the common larger deletion of type A. This finding suggests that psychiatric symptoms in VCFS can occur without major developmental symptoms such as cardiovascular anomalies and cleft palate. Additional patients with schizophrenia may have subtle features of VCFS which are unrecognised on routine medical examinations.- - - - - - - - - - ranking = 5keywords = chromosome (Clic here for more details about this article) |
9/91. Against the odds: growing up with parents who have learning difficulties.For this article we drew on material from a study in which we explored how people who were brought up in a family headed by a parent or parents with learning difficulties managed the transition to adulthood. Using evidence from in-depth interviews, we provided an assessment of how the now-adult children came through what would generally be seen as a risk-filled upbringing. Despite the problems they encountered in their childhood, many of which originated outside the home, most of the informants had maintained a valued relationship with their family and remained close to their mother.- - - - - - - - - - ranking = 0.010162387080535keywords = ring (Clic here for more details about this article) |
10/91. The spectrum of acquired cognitive disturbances in children with partial epilepsy and continuous spike-waves during sleep. A 4-year follow-up case study with prolonged reversible learning arrest and dysfluency.We report a longitudinal study (7-11 years) of a previously normal boy (MR) who presented from the age of 5 years with rare partial motor seizures and atypical 'absences'. The history revealed a stagnation in development and speech difficulties a few months before onset of his epilepsy. The first waking electroencephalogram (EEG) showed rare generalized discharges during hyperventilation. magnetic resonance imaging revealed an arachnoid cyst in the frontotemporal region. Although his epilepsy never became severe, he experienced important learning difficulties. Subsequent EEGs became increasingly active with left focal epileptic activity and continuous spike-waves during sleep (CSWS) present from the first sleep EEG. The first neuropsychological evaluation (7 years) showed a speech dysfluency, word finding and naming problems, inattention and low intelligence quotient. carbamazepine was changed to clobazam and later ethosuximide was added with a rapid improvement (within 1 month) in linguistic and cognitive performances as well as in behaviour. Furthermore, the patient showed considerable progress in acquisition over the next months whereas learning to read had previously been very difficult. The epileptic activity gradually disappeared and he was able to follow regular school at an age-appropriate level. This case adds a new facet to the already recognized more obvious acquired neuropsychological disturbances known to occur in some partial childhood epilepsy syndromes with CSWS (aphasia, dementia). It manifested as prolonged insidious stagnation in learning and subtle language disability. This study documents rapid specific language improvement with change in anti-epileptic drugs and a restored immediate and long-term learning capacity, suggesting a direct but 'hidden' role of epilepsy.- - - - - - - - - - ranking = 0.060974322483212keywords = ring (Clic here for more details about this article) |
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