The effects of rehabilitation on functional independence of Eastern Taiwanese children with rare or genetic diseases.

Objectives: This study investigated the effects of outpatient rehabilitation therapy (RT) on the functional performance of children from Eastern Taiwan with rare or genetic diseases. Materials and Methods: This retrospective observational cohort study included 73 children from Eastern Taiwan who were affected with rare or genetic diseases, with an average age of 8.57 ± 5.33 years (47 boys and 26 girls). Each child received the goal-directed therapy known as outpatient RT, which was delivered by a multidisciplinary team of specialists. To assess the effectiveness of RT, the WeeFIM-C questionnaire data were collected and analyzed. Results: After receiving outpatient RT, most of the children only required low-to-moderate assistance with self-care tasks (4.36 ± 2.38), and they could perform mobility-related activities under supervision or independently (5.70 ± 2.29). Moreover, most only required minimal assistance with tasks related to cognitive functioning and tended to complete such tasks under supervision (4.97 ± 2.05). The functional performance was significantly different among three studied groups, in terms of self-care (F[2, 68] = 5.42, P < 0.007), mobility (F[2, 68] = 8.17, P < 0.001), cognitive functioning (F[2, 68] = 3.31, P < 0.042), and overall (F[2, 68] = 6.44, P < 0.003) functional performance. Conclusion: The results of this study demonstrated that the functional status was different among three studied groups in terms of self-care, mobility, and cognitive functioning after receiving outpatient RT.

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions.

Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or more chromosomal breakpoints between at least two chromosomes. Here, we present a 3-year-old boy exhibiting multiple congenital malformations and developmental delay. The cytogenetic analysis found a highly complex CCR inherited from the mother involving four chromosomes and five breakpoints due to forming four derivative chromosomes (2, 3, 6 and 11). FISH analysis identified an ultrarare derivative chromosome 11 containing three parts that connected the 11q telomere to partial 6q and 3q fragments. We postulate that this derivative chromosome 11 is associated with chromoanagenesis-like phenomena by which DNA repair can result in a cooccurrence of inter-chromosomal translocations. Additionally, chromosome microarray studies revealed that the child has one subtle maternal-inherited deletion at 6p12.1 and two de novo deletions at 6q14.1 and 6q16.1~6q16.3. Here, we present a familial CCR case with rare rearranged chromosomal structures and the use of multiple molecular techniques to delineate these genomic alterations. We suggest that chromoanagenesis may be a possible mechanism involved in the repair and reconstitution of these rearrangements with evidence for increasing genomic imbalances such as additional deletions in this case.

Gender Differences in Caring for Children with Genetic or Rare Diseases: A Mixed-Methods Study.

As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among caregivers of pediatric genetic or rare disease populations to improve the understanding of such gender differences. Applying a concurrent triangulation mixed-methods design, we conducted a questionnaire survey to assess study measures for 100 family caregivers (42 men and 58 women), which included a free-text response item to probe caregivers' subjective perceptions of the children's illness. The gender differences hypothesis was tested with statistics and the qualitative data about illness perception was analyzed by directed content analysis. Most female caregivers served as the primary caregivers and provided more caregiving, while they experienced significantly increased levels of parenting stress and depressive symptoms compared with male caregivers. Female caregivers perceived the conditions of their children's diseases to be highly symptomatic, with negative consequences and requiring disease control. By contrast, male caregivers had stronger perceptions regarding the negative effects of the disease on the children's quality of life. The gender discrepancy in viewpoints of illness perception sequence may contribute to female caregivers' higher levels of stress and depressive symptoms than males.

[The Effectiveness of a Shared Reading Program Among Parents of Newborns].

BACKGROUND: Early parent-child shared reading has been demonstrated to promote the development of literacy, reading skills and learning achievement in young children. Parent-child shared reading intervention programs may strengthen the willingness and reading competence of parents. PURPOSE: To explore the attitudes and skills related to parent-child shared reading before and after an intervention program conducted in a nursery room and outpatient pediatric clinic. METHODS: A single-group pretest-posttest quasi-experimental design was conducted. Seventy-five parents of newborns in the baby rooms from two hospitals in Hualien County were conveniently sampled. Parents who had just given birth received health education before discharge from the hospital from nurses focusing on the knowledge and skills of shared reading. Three age-matched picture books with reading fact sheets and consultation support were offered free to parents of children in three, respective, age groups (newborn, 4-months old and 6-months old) during parent-child visits to the pediatric clinic for regular health examinations and vaccinations. A self-designed questionnaire was administered to analyze the parents' demographic variables, reading environment, parents' attitudes toward parent-child shared reading, and familiarity with regard to parent-child shared reading skills. RESULTS: Parent-child reading attitudes were positively correlated with skill familiarity (r = .39). The presence or absence of children's books at home, the parent-child relationship, and parental reading habits explained 32.0% of the variance in parent-child shared-reading attitudes (R2 = .32). The presence or absence of children's books at home and the presence or absence of a library card for the child explained 44.0% of the variation in familiarity with co-reading skills (R2 = .44). Parent-child shared reading attitude scores (t = -5.14, p < .001) and skill familiarity of parents (t = -7.52, p < .001) both increased significantly after the intervention program. CONCLUSIONS / IMPLICATIONS FOR PRACTICE: Parent-child shared reading educational intervention programs may be used to improve parental attitudes and skills related to parent-child shared reading.

[Introduction to Genetic/Rare Disease and the Application of Genetic Counseling].

Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare. The pathophysiology of genetic/ rare disease is very complicated. Individual disorders may have their own unique mechanisms (such as Fragile X syndrome), with most of these mechanisms still unclear or unknown. The symptoms and signs of genetic/rare disease thus present the greatest variabilities and cause difficulties in making diagnoses. Most related patients may present multiple congenital anomalies, metabolic disorders, growth and developmental delays, defects in cognition, neuromuscular abnormalities, and defects in vision, hearing or other organ functions. Symptomatic and supportive treatment still comprise a major component of treatment of genetic/rare disease (with the exception of special formulae for several inborn errors of metabolic disease and enzyme replacement therapy in some lysosomal storage disease). Poor self-care ability is common and the burden on caregivers is huge. Most rare disease patients are treated using a comprehensive rehabilitation program that begins during very early childhood, receive individual educational programs, and are continuously monitored with regard to their growth, developmental, and nutritional status. Inter-professional patient care, genetic counseling, and the creation of family support networks play an important role in family management. Public awareness and the creation of appropriate social systems and resources allocation are mandatory for proper care. The incidence of each genetic/rare disease is rare, but collectively they are important public health issue and a challenge to medical care.