1/22. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 1keywords = speech (Clic here for more details about this article) |
2/22. Subclinical hyperthyroidism and hyperkinetic behavior in children.The authors report three children who exhibited developmental learning disabilities (DLDs) associated with behavioral disturbances, such as attention deficit, hyperactivity, and autistic features. The thyroid function tests performed as a part of routine endocrinologic evaluation of children with DLDs revealed a hormonal profile consistent with hyperthyroidism. These children had no systemic signs of hyperthyroidism. Treatment with neomercazole resulted in good control of their hyperkinetic behavior and subsequent improvement in language function attributable to an increased attention span, thereby facilitating speech therapy. Although routine screening of all children with DLDs for thyroid dysfunction may not be cost-effective, selective screening of children with familial attention-deficit hyperactivity disorder and those with attention-deficit and hyperactivity in association with DLDs and pervasive developmental disorders appears to be justified.- - - - - - - - - - ranking = 1keywords = speech (Clic here for more details about this article) |
3/22. An interdisciplinary team approach--a case report.A case study is presented as a means of demonstrating the advantage of an interdisciplinary approach. The paper familiarizes the reader with the contributions to be made by a team composed of an optometrist, speech pathologist/audiologist, psychologist, and educational diagnostician. Based on the authors' experiences, it would appear that the total team approach is a most beneficial way of assisting the child with a learning disability.- - - - - - - - - - ranking = 1keywords = speech (Clic here for more details about this article) |
4/22. 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 = 1keywords = speech (Clic here for more details about this article) |
5/22. 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 = 2keywords = speech (Clic here for more details about this article) |
6/22. Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.Velocardiofacial syndrome is the most common microdeletion syndrome in humans. It is secondary to a chromosome 22q11 rearrangement and is characterized by craniofacial abnormalities, heart defects and learning disability. We report a case of a 10-year-old girl with a chromosome 22q11 deletion who, in addition to learning difficulties, hypernasal speech and mild dysmorphic features, had weakness and wasting of the shoulder girdle muscles but no cardiac involvement. brain magnetic resonance imaging revealed narrowing of the cervicomedullary junction. The clinical features of this patient with velocardiofacial syndrome further expand the spectrum of abnormalities associated with this condition.- - - - - - - - - - ranking = 1keywords = speech (Clic here for more details about this article) |
7/22. Mental development in polysomy X klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation.The child with XXY or a variant form is a fertile ground for scientific investigation because of the homogeneity of the disorder and the increased prevalence of learning disorders associated with it. However, the research studies of boys with XXY (klinefelter syndrome) have been plagued by a variety of factors from small sample size, methodological flaws, and ascertainment bias. In spite of these shortcomings, there remains some consistency to the neurobehavioral profile of this disorder. In general, the prenatal population of boys with XXY is less affected developmentally and is more academically successful than the boys identified through postnatal diagnosis. Boys with XXY often have decreased muscle tonus, delayed speech, and language skills with an increased incidence of reading differences and dyslexia. It does appear that social difficulties may be mediated by language processing problems and temperamental issues. The neurobehavioral and neurocognitive phenotype of boys with XXY places them at risk for school failure and secondary behavioral disturbances. Therefore, early evaluation and intervention is strongly recommended since the prognosis may be improved significantly with appropriate therapeutic intervention. The natural history of this disorder is not well defined from the neurodevelopmental, neuroimaging, and cytogenetic perspective. Further investigation into the effects and the relationships between parental origin and outcome may provide many answers regarding the variability of the disorder. Lastly, some promising theories have been postulated regarding the neurobiological etiology of this disorder, which requires more investigation if we are to understand the pathogenesis of this XXY and its effect on learning.- - - - - - - - - - ranking = 1keywords = speech (Clic here for more details about this article) |
8/22. A family with a grand-maternally derived interstitial duplication of proximal 15q.About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.- - - - - - - - - - ranking = 1keywords = speech (Clic here for more details about this article) |
9/22. A case study of the apprenticeship process: another perspective on the apprentice and the scaffolding metaphor.This study focused on the apprenticeship opportunities in a collaborative writing context. The examination of written artifacts and discursive interactions revealed that collaborative contexts offered unique participatory spaces that allowed students to use their knowledge in ways that exceeded their independent competence. Of note, too, is that the study revealed students' active and constructive role, refuting the perception that most students with disabilities are passive learners in the teaching-learning process. Implications of the study further suggest the importance of peer collaborations in creating successful literacy apprenticeships, as well as in providing teachers with greater insight into the developmental progress and literacy potentials of their students in the context of situated literacy activity.- - - - - - - - - - ranking = 0.1809411989736keywords = perception (Clic here for more details about this article) |
10/22. The language of dissociation.Three case studies of inner-city elementary school children illustrate the connection between speech-language disorders and dissociative disorders in children who have known or suspected trauma histories. The role of speech language pathologists in identifying and responding to dissociative symptoms in children is explored. Lack of adequate training concerning the impact of trauma and scarce literature on the communication profiles of dissociative children contributes and greatly impacts the diagnosis, referral, and treatment of these children. The case studies demonstrate how unusual speech and language symptoms and awareness of dissociative features may aid in identifying trauma-related problems and instituting effective treatment. Grounding techniques and specific language interventions can assist children in acquiring the vocabulary needed for communicating both their daily experiences and traumatic histories. The nature of the relationship between dissociation and communication disorders is explored, and the importance of future research, interdisciplinary collaboration, and trauma training in the speech-language curriculum is emphasized.- - - - - - - - - - ranking = 4keywords = speech (Clic here for more details about this article) |
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