Finding meaning in parenting a child with Asperger syndrome: correlates of sense making and benefit finding

This study explored the nature of two construals of meaning, benefit finding and sense making, in parents of a child with Asperger syndrome, and examined relations between both meaning constructs and the Double ABCX family stress model variables (initial stressor and pile-up of demands, appraisal, social support, coping strategies and adjustment) [H.I. McCubbin, J.M. Patterson, Social Stress and the Family: Advances and Developments in Family Stress Theory and Research, Haworth, New York, 1983, pp. 7-37]. A total of 59 parents completed questionnaires. Content analyses of parents' responses to questions inquiring about gains and sense making explanations revealed 8 benefit and 12 sense making themes. Results of correlations indicated that one or more of the meaning variables were related to each of the Double ABCX model predictors of parental adjustment. The meaning variables were positively related to adaptive coping processes: social support, self-efficacy, and problem-focused and emotional approach coping strategies. (C) 2004 Elsevier Ltd. All rights reserved.

Maternal support for autonomy : relationships with persistence for children with Down syndrome and typically developing children

Maternal behaviors and child mastery behaviors were examined in 25 children with Down syndrome and 43 typically developing children matched for mental age (24–36 months). During a shared problem-solving task, there were no group differences in maternal directiveness or support for autonomy, and mothers in the two groups used similar verbal strategies when helping their child. There were also no group differences in child mastery behaviors, measured as persistence with two optimally challenging tasks. However, the two groups differed in the relationships of maternal style with child persistence. Children with Down syndrome whose mothers were more supportive of their autonomy in the shared task displayed greater persistence when working independently on a challenging puzzle, while children of highly directive mothers displayed lower levels of persistence. For typically developing children, persistence was unrelated to maternal style, suggesting that mother behaviors may have different causes or consequences in the two groups.

Strategy use of children with Down syndrome in a delay of gratification situation

Background: The capacity to delay gratification has been shown to be a very important developmental task for children who are developing typically. There is evidence that children with Down syndrome have more difficulty with a delay of gratification task than typically developing children of the same mental age. This study focused on the strategies children with Down syndrome use while in a delay of gratification situation to ascertain if these contribute to the differences in delay times from those of typically developing children. Method: Thirty-two children with Down syndrome (15 females) and 50 typically developing children participated in the study. Children with Down syndrome had a mental age, as measured by the Stanford-Binet IV, between 36 and 66 months (M = 45.66). The typically developing children had a mean chronological age of 45.76 months. Children participated in a delay of gratification task where they were offered two or one small treats and asked which they preferred. They were then told that they could have the two treats if they waited for the researcher to return (an undisclosed time of 15 min). If they did not want to wait any longer they could call the researcher back but then they could have only one treat. Twenty-two of the children with Down syndrome and 43 of the typically developing children demonstrated understanding of the task and their data are included here. Sessions were videotaped for later analysis. Results: There were significant differences in the mean waiting times of the two groups. The mean of the waiting times for children with Down syndrome was 181.32 s (SD = 347.62) and was 440.21 s (SD = 377.59) for the typically developing children. Eighteen percent of the group with Down syndrome waited for the researcher to return in comparison to 35% of the typically developing group. Sixty-four percent of children with Down syndrome called the researcher back and the remainder (18%) violated. In the typically developing group 37% called the researcher back and 28% violated. The mean waiting time for the group of children with Down syndrome who called the researcher back was 24 s. Examination of strategy use in this group was therefore very limited. There appeared to be quite similar strategy use across the groups who waited the full 15 min. Conclusions: These results confirm the difficulty children with Down syndrome have in delaying gratification. Teaching strategies for waiting, using information drawn from the behaviours of children who are developing typically may be a useful undertaking. Examination of other contributors to delay ability (e.g., language skills) is also likely to be helpful in understanding the difficulties demonstrated in delaying gratification.

Parenting satisfaction and self-efficacy : a longitudinal study of mothers of children with Down Syndrome

Continuities and changes in parenting sense of competence were examined for mothers of children with Down syndrome from early childhood to adolescence. The sample comprised 25 mothers whose child with Down syndrome was aged 4-6 years in the first phase of the study, and 11-15 years at the second time point. Maternal satisfaction with parenting increased over time, but there were no changes in parenting self-efficacy. Scores on these measures were no different from those reported in a normative sample of mothers of typically developing children, suggesting that the challenges of parenting a child with Down syndrome do not impact significantly on parenting sense of competence during the early childhood and adolescent periods. There were some significant relationships of maternal sense of competence with child characteristics and self-reported parenting style, mostly in the expected direction.

The experiences of teachers teaching children with Down syndrome in the early years of schooling

This innovative collective case study research documented teachers' experiences of teaching children with Down syndrome in the early years of schooling in Australia. Results indicated differences in teachers' conceptualisation of children with Down syndrome as learners and how these variations impacted the way the child was included within the class. Unique to this research was the utilisation of a mind-mapping technique of data collection which effectively captured the individual nature of teachers' experiences, making implicit knowledge explicit through description and interpretation of these experiences. Overall findings indicated that teachers were more likely to include children with Down syndrome into general education classrooms if they operated within a contemporary understanding of disability, had positive support from key stakeholders such as school principals and parents/caregivers, and had access to current information on Down syndrome from professional bodies.

Co-occurring anger in young people with Asperger's syndrome

Objectives: The co-occurrence of anger in young people with Asperger's syndrome (AS) has received little attention despite aggression, agitation, and tantrums frequently being identified as issues of concern in this population. The present study investigated the occurrence of anger in young people with AS and explores its relationship with anxiety and depression. Method: Sixty-two young people (12-23 years old) diagnosed with AS were assessed using the Beck Anger Inventory for Youth, Spence Children's Anxiety Scale, and Reynolds Adolescent Depression Scale. Results: Among young people with AS who participated in this study, 41% of participants reported clinically significant levels of anger (17%), anxiety (25.8%) and/or depression (11.5%). Anger, anxiety, and depression were positively correlated with each other. Depression, however, was the only significant predictor of anger. Conclusion: Anger is commonly experienced by young people with AS and is correlated with anxiety and depression. These findings suggest that the emotional and behavioral presentation of anger could serve as a cue for further assessment, and facilitate earlier identification and intervention for anger, as well as other mental health problems.

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

PURPOSE The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome. METHODS Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroencephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplotype analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affymetrix SNP 5.0 array data. RESULTS We observed an early-onset partial epilepsy syndrome with seizure semiology strongly suggestive of temporal lobe epilepsy (TLE), with mild intellectual deficit co-occurring in a large proportion of the patients. Psychiatric morbidity was common in the extended pedigree but did not cosegregate with epilepsy. Linkage analysis definitively excluded previously reported loci, and identified a novel locus on 5q31.3-q32 with an logarithm of the odds (LOD) score of 3 corresponding to the expected maximum in this family. DISCUSSION The syndrome can be classified as familial temporal lobe epilepsy (FTLE) or possibly a new syndrome with mild intellectual deficit. The linked 5q region does not contain any ion channel-encoding genes and is thus likely to contribute new knowledge about epilepsy pathogenesis. Identification of the mutation in this family and in additional patients will define the full phenotypic spectrum.

Behçet's syndrome involving the gastrointestinal tract: a diagnostic dilemma in childhood

Behçet's syndrome is very rare in children, especially those under 10 years of age. Clinical and radiological features are described in 4 children, including 2 under the age of 5 years, with the syndrome. As in other pediatric cases reported, the incomplete form of Behçet's syndrome was present in each case. All 4 patients had oral and genital mucosal effects, arthritis and gastrointestinal and dermatological manifestations. Ophthalmological symptoms occurred in only 1 patient. Radiologically, the 4 cases demonstrated the spectrum of gastrointestinal involvement, from minimal irregularity and thickening of the terminal ileum to gross irregularity and deformity of the terminal ileum and cecum. Because of the difficulty in differentiating Behçet's syndrome from other forms of inflammatory bowel disease it is suggested that in children with gastrointestinal involvement, 3 major criteria be present before the diagnosis of Behçet's syndrome is made.

Treatment of distal intestinal obstruction syndrome in cystic fibrosis with a balanced intestinal lavage solution

Conventional treatment of distal intestinal obstruction syndrome (DIOS) with high doses of pancreatic enzymes, mucolytic agents, and enemas is neither predictably effective nor rapid in action. In 6 cystic fibrosis patients with DIOS a balanced, non-absorbable intestinal lavage solution produced clinical and radiological improvement and striking improvement in DIOS scores. It is suggested that a balanced intestinal lavage solution should be considered as an alternative treatment for DIOS in patients with cystic fibrosis.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

Aim Scoliosis is a common co-morbidity in Rett syndrome and spinal fusion may be recommended if severe. We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. Method Data were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population-based registry, and from the Australian Institute of Health and Welfare National Death Index database. Cox regression and generalized estimating equation models were used to estimate the effects of spinal surgery on survival and severe respiratory infection respectively in 140 females who developed severe scoliosis (Cobb angle ≥45°) before adulthood. Results After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (hazard ratio [HR] 0.30, 95% confidence interval [CI] 0.12–0.74; p=0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06–0.52; p=0.002). There was some evidence to suggest that spinal fusion was associated with a reduction in risk of severe respiratory infection among those with early onset scoliosis (risk ratio 0.41, 95% CI 0.16–1.03; p=0.06). Interpretation With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.

Following the completion of a 20-week, open-label study of the safety and efficacy of liquid rivastigmine for adolescents with Down syndrome, 5 of the 10 adolescents in the clinical trial continued long-term rivastigmine therapy and 5 did not. After an average period of 38 months, all 10 subjects returned for a follow-up assessment to determine the safety and efficacy of long-term rivastigmine use. Rivastigmine was well tolerated and overall health appeared to be unaffected by long-term rivastigmine use. Performance change on cognitive and language measures administered at the termination of the open-label clinical trial was compared between the two groups. No between-group difference in median performance change across the long-term period was found, suggesting that the long-term use of rivastigmine does not improve cognitive and language performance. However, two subjects demonstrated remarkable improvement in adaptive function over the long-term period. Both subjects had received long-term rivastigmine therapy. The discussion addresses the challenge of assessing cognitive change in clinical trials using adolescents with Down syndrome as subjects and the use of group versus individual data to evaluate the relevance of medication effects.

Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.

It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three gamma-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3) located in the deleted region, a possible modification of peripheral markers of the GABAergic system was investigated in 12 subjects with Angelman's syndrome and 20 age-matched subjects (8 with idiopathic epilepsy and 12 not affected by neurologic diseases). The results confirmed a more severe clinical picture, and epilepsy syndrome in particular, in Angelman's syndrome patients with deletions versus patients without deletions. In contrast, biochemical study (based on dosage of plasma levels of GABA and diazepam binding inhibitor, an endogenous ligand of GABAA and peripheral benzodiazepine receptors, showed contradictory results: patients with Angelman's syndrome showed significantly higher levels of GABA and diazepam binding inhibitor than patients without neurologic impairment but significantly lower levels than epileptic controls.