1/20. comorbidity of autistic spectrum disorders in children with down syndrome.The aim of the study was to identify the comorbidity of autistic spectrum disorders in a population of children with down syndrome (DS). All children with DS within a defined population of South Birmingham were identified. The Asperger Syndrome Screening Questionnaire and the child Autism Rating Scale were completed and diagnosis made according to ICD-10 criteria following interview and observation. Thirty-three of 58 identified children completed the measures, four of whom received a diagnosis of an autistic spectrum disorder. This is equivalent to a minimum comorbid rate of 7%. The questionnaire items concerning social withdrawal, restricted or repetitive interests, clumsiness, and unusual eye contact were associated with an autistic disorder. Of the remaining 29 participating children, 11 also displayed marked obsessional and ritualistic behaviours. The comorbid occurrence of autism and DS is at least 7%. It is important that these children are identified and receive appropriate education and support. A full assessment of social, language, and communication skills and behaviour is crucial, particularly in children with DS who appear different from other children with DS. Potential mechanisms accounting for this comorbidity are discussed.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/20. Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei.We have used dual color fluorescence in situ hybridization (FISH) on decondensed sperm heads from four carriers of structural chromosome reorganizations, viz. t(3;15), t(Y;7), t(13;22) and inv(9), to assess the possible existence of an interchromosomal effect (ice) on the segregation of chromosome 21. In the carriers of t(Y;7), t(13;22) and inv(9), all results were within the limits described in controls. A highly significant increase (P<0.0001) of disomy 21 (1.90% v 0.37%), which could be considered as a positive ice, was observed in the t(3;15) carrier. Significantly higher percentages (P<0.0001) of diploid sperm (5.71% v. 0.27%) were also observed in this patient. Our results suggests that the occurrence of an ice may depend on the reorganization and on the chromosome and chromosome regions involved, resulting in a particular meiotic behaviour (presence of unsynapsed regions, preferential meiotic configurations) that could lead to the observed increase in chromosome 21 disomies. Further studies with this technical approach in a wide range of structural reorganizations could help to elucidate the actual occurrence of ICEs.- - - - - - - - - - ranking = 0.5keywords = behaviour (Clic here for more details about this article) |
3/20. Obsessional slowness in Down's syndrome.BACKGROUND: Obsessional slowness was originally described by S. Rachman in 1974. His patients had obsessive-compulsive disorder (OCD) and spent hours performing daily routines such as bathing, dressing and eating. Although some ritualistic behaviours were seen, slowness was the most prominent problem for these patients. Subsequently, a number of similar case reports emerged. In 1994, R. J. Pary described a small number of patients who had both obsessional slowness and Down's syndrome (DS). Apart from this, only one other report of slowness symptoms in people with developmental disabilities has been found in the literature, and this individual also had DS. methods: In the present exploratory case series report, 11 individuals with DS and slowness are described based on a retrospective chart review. Descriptive data and four case vignettes are presented. RESULTS: The 11 individuals with DS were described as spending hours engaged in usual daily routines. Several individuals had tics, hypothyroidism and periods of freezing. Although some ritualistic behaviours were described, slowness was seen to occur in the absence of these, and often without manifest anxiety. DISCUSSION: Obsessional slowness may be a severe variant of OCD. Although it appears to occur infrequently, there may be an elevated rate in people with DS. The current report is severely limited in scope since the case descriptions were based on a retrospective review. However, because of the paucity of published information about this clinical phenomena, it was felt that the case series might serve to establish the need for further, more systematic, prospective evaluation of individuals with DS and clinically significant slowness.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/20. A 'positive' approach to supporting a pupil with down syndrome during 'dedicated numeracy time'?This exploratory study has been designed to consider how mainstream staff can most effectively support pupils with down syndrome in numeracy. The study is partly based on the work of Wishart (1996, 2001), looking at motivation and learning styles in young children with down syndrome. An individual case study was carried out during 'dedicated numeracy time', a central part of the National Numeracy Strategy framework, in a reception class. Background information was collected from the educational records of the pupil, initial unstructured observations and semi-structured interviews with the class teacher and learning Support Assistant. Structured observations were carried out across individual, group and whole class settings. The findings, from this single case study, revealed that, contrary to the expectations of staff, the pupil demonstrated less inappropriate behaviour in the whole class setting, in comparison to individual and group settings. However, the pupil was more successful in his independent attempts at tasks in individual and group settings, in comparison with the whole class setting. The report concludes that it is important to provide pupils with appropriate support to avoid failure, particularly during the early stages of learning. It also recommends that the pupil is able to work within the mainstream classroom and participate, with the appropriate support, in the whole class 'mentral maths' session and plenary on a more regular basis. This is a small-scale study and the findings tentative. It does however indicate the need for further research in this area.- - - - - - - - - - ranking = 0.5keywords = behaviour (Clic here for more details about this article) |
5/20. Changes in linguapalatal contact patterns during therapy for velar fronting in a 10-year-old with Down's syndrome.BACKGROUND: Articulation errors in the speech of people with Down's syndrome are frequent and often resistant to speech therapy. This preliminary study investigates the use of electropalatography (EPG) to diagnose and treat abnormal articulation patterns associated with velar fronting in a 10-year-old girl. AIMS: The study measured changes in the accuracy and stability of linguapalatal (tongue-palate) contact patterns during a 14-week course of visual feedback therapy using EPG. Therapy aimed to resolve a pattern of velar fronting whereby targets /k, g, eta/ had alveolar placement [t, d, n]. methods & PROCEDURES: The participant was a girl (P) with Down's syndrome aged 10;11 years. P had a moderate-severe speech disorder, which included velar fronting. Her speech was recorded with EPG on three occasions during a 14-week course of therapy: first, before therapy; second, midway through therapy; and third, after therapy. Three analyses were conducted on the EPG data. The first used an EPG classification scheme that identified accuracy of placement for /t/ and /k/ targets. The second was a centre of gravity measure that detected whether P produced a significant difference between /t/ and /k/ targets. The third was a variability index that quantified the stability of contact patterns. OUTCOMES & RESULTS: The results of the EPG classification showed that before therapy, /t/ and /k/ targets had identical alveolar placement, reflecting the process of velar fronting. The results after therapy showed that 87% of /k/ targets had accurate velar placement. The centre of gravity measure showed no difference in contact patterns for /t/ and /k/ before therapy, but a statistically significant difference at the second and third recordings. The variability index showed stable contact patterns before therapy for /t/ and /k/ targets, but both became highly unstable midway through therapy, with a return to stability at the third recording. We embed a discussion of P's increased articulation instability during therapy in a recent theoretical framework--dynamic systems--that attempts to account for the emergence of new behavioural forms. CONCLUSIONS: These preliminary results suggest that EPG has potential as an effective diagnostic and therapy procedure for articulation errors in people with Down's syndrome. A major issue still to be addressed, however, is the extent to which others will benefit from this approach to intervention.- - - - - - - - - - ranking = 0.5keywords = behaviour (Clic here for more details about this article) |
6/20. trisomy 21 mosaicism in two subjects from two generations.In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xeroderma pigmentosum, a low proportion of cells with a 47,XY, 21 karyotype was found in lymphocyte cultures of a patient not showing any down syndrome symptom. The presence of trisomy 21 mosaicism was demonstrated also in peripheral blood of the healthy father and confirmed by "chromosome painting" that allowed a rapid detection of chromosomes 21 on metaphase cells and interphase nuclei. The trisomic cell line was not detected in fibroblast cultures. The analysis of chromosome 21 heteromorphism indicated that in both subjects the mosaic could result from either a diploid or an aneuploid zygote. Since in the trisomic cell line of the father and the son the extra chromosome 21 seems to be the same, a predisposition toward mitotic errors (non-disjunction or anaphase lagging) may be postulated, leading to the recurrent gain or loss of a specific chromosome 21. In order to test the hypothesis of an abnormal mitotic behaviour of the chromosome 21, we investigated the centromere separation index and the dna restriction pattern in Southern blots probed with satellite dna sequences specific for chromosome 21 centromere. Both the approaches did not reveal any peculiar feature that may account for the genetically determined proneness to mitotic error observed in the family.- - - - - - - - - - ranking = 0.5keywords = behaviour (Clic here for more details about this article) |
7/20. Autism in Down's syndrome: presentation and diagnosis.Although autism is said to occur rarely with Down's syndrome, it may be more common in those persons with Down's syndrome who also show superimposed behavioural problems. In this brief report, the authors explore this possibility. They describe three patients with Down's syndrome who were referred for behavioural reasons and were found to have coexisting autism. They propose that a systematic study of the association of these two conditions may have implications on research and clinical practice.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
8/20. A language programme to increase the verbal production of a child dually diagnosed with down syndrome and autism.BACKGROUND: The incidence of children dually diagnosed with down syndrome and autism is estimated to be as high as 11%. There is a paucity of research investigating linguistic treatment interventions for such children. This single-subject experiment examined a programme designed to increase the language production and verbal behaviour of a 9-year-old dually diagnosed boy who had been receiving a 15-h/week home-based applied behaviour analysis (ABA) programme. methods: Training principles were derived from previously empirically validated research in discrete trail learning and natural environment teaching, as well as modified incidental teaching procedures. The crux of the language programme involved withholding reinforcement until a spoken request was made. RESULTS: language production noticeably increased for each target area after the introduction of the language programme and was maintained at a 9-month follow-up session. CONCLUSIONS: A combined treatment approach incorporating direct instruction, natural environment teaching and incidental teaching can be effective in increasing and maintaining responsive and spontaneous speech in a child with down syndrome diagnosed with autism. Replication studies are needed with such multiple dually diagnosed children to further evaluate the effectiveness and generalizability of this combined language programme.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
9/20. mental health, behaviour and intellectual abilities of people with down syndrome.The mental health, adaptive behaviour and intellectual abilities of people with down syndrome (n=129) were evaluated in a population-based survey of social and health care records. Females had better cognitive abilities and speech production compared with males. Males had more behavioural problems than females. Behaviour suggestive of attention deficit hyperactivity disorder was often seen in childhood. depression was diagnosed mainly in adults with mild to moderate intellectual disability. Autistic behaviour was most common in individuals with profound intellectual disability. Elderly people often showed decline of adaptive behaviour associated with Alzheimer's disease. Case descriptions are presented to illustrate the multitude of mental health and behavioural issues seen from childhood to old age in this population.- - - - - - - - - - ranking = 4.5keywords = behaviour (Clic here for more details about this article) |
10/20. trisomy 12p mosaicism syndrome.A case of trisomy 12p mosaicism originating de novo in a 21-year-old profoundly mentally handicapped female who presented with severe behaviour problems is described. The 12p syndrome has been confirmed by clinical, cytogenetic and biochemical studies. The findings are compared with those of other cases with trisomy 12p arising de novo.- - - - - - - - - - ranking = 0.5keywords = behaviour (Clic here for more details about this article) |
| | Next -> |