Predictors of receptive and expressive vocabulary development in children with Down syndrome

Purpose: There is a lack of longitudinal data on predictors of vocabulary development in children with Down syndrome (DS). In typically developing children, many internal and external predictors of vocabulary development have been determined before. The purpose of the present study was to investigate the role of these variables in the receptive and expressive vocabulary development of children with DS.

Method: The present study used a longitudinal design in young children with DS to study the vocabulary development over a period of 1.6 years and investigated the possible predictive role of child-related and environmental variables.

Result: Receptive vocabulary development was best predicted by the adaptive level of functioning and early receptive vocabulary skills. Expressive vocabulary development was best predicted by the adaptive level of functioning, receptive vocabulary, maternal educational level, level of communicative intent of the child, attention skills and phonological/phonemic awareness.

Conclusion: A wide range of internal and external predictors for vocabulary development of children with DS was found. Predictors resemble those predicting vocabulary development in peers with typical development between 1 and 6 years of age, as identified in other studies.     

The multi-directional reach test in children with Down syndrome

Objective:This study investigated the limits of stability (LOS) and the movement patterns during reaching by applying the Multi-Directional Reach Test (MDRT) in children with Down syndrome (DS) aged 7–12 years old.Methods:Thirty children with DS and 30 age and gender typical development (TD) matched children, aged 7–12 years old were recruited. Each child was asked to reach as far as possible during standing in four directions using a self-selected movement pattern. The movement patterns were classified by two experienced pediatric physical therapists.Results:The reach distance in children with DS aged 7–9 years old was significantly shorter than TD children aged 7–9 years old for the forward and backward directions. Also, the reach distance in DS children aged 7–9 years old was significantly smaller than that of TD children aged 10–12 years old for all directions. For children with DS aged 10–12 years old, the reach distance was significantly less than that of TD children only in the backward direction. All children with DS in this study adopt a hip and mixed strategy during forward and backward reaching. In contrast, TD children adopt an adult-like movement pattern.Conclusion:The boundary of stability in an anteroposterior (AP) direction of children with DS aged 7–12 years old was lesser than the matched TD children, especially for the backward direction. These findings may assist therapists in detecting postural control and balance problems in children with DS.     

High incidence of acute lung injury in children with Down syndrome

Objective Acute respiratory tract infection is a common reason for hospitalization in children with Down syndrome (CDS) and is characterized by a high morbidity. The severe course of disease in CDS may be related to a higher incidence of acute lung injury (ALI). This study evaluated the incidence of ALI and acute respiratory distress syndrome (ARDS) in mechanically ventilated CDS. Design and setting Retrospective cohort study in a pediatric ICU. Patients and participants Cases were all mechanically ventilated CDS admitted to our unit between January 1998 and July 2005. All mechanically ventilated patients without Down syndrome from January 1998 to January 2001 served as controls. Postoperative patients (cases and controls) and those with a cardiac left to right shunt were excluded. Measurements and results The main outcome measure was the incidence of ALI and ARDS. The criteria for ALI were met in 14 of 24 CDS (58.3%) in 41 of 317 of controls (12.9%; OR 9.4, 95% CI 3.9–22.6). The criteria for ARDS were met in 11 of 24 CDS (46%) and in 21 of 317 of controls (7%; OR 11.9, 95% CI 4.8–29.8). None of the CDS with ALI died; in the control group ten patients with ALI died. Conclusions CDS had a significantly higher incidence of ALI and ARDS than children without Down syndrome. The explanation for this remains to be elucidated; further study is necessary before clinical implications become clear.     

Leisure participation for school-aged children with Down syndrome

Purpose.?To describe leisure participation for school-aged children with Down syndrome and to investigate how factors, classified by the World Health Organisation's International Classification of Functioning, Disability and Health, influence their leisure participation.

Method.?Families in Western Australia with a child aged 5–18 years with Down syndrome were surveyed in a population-based study (n == 208) in 2004.

Results.?One-third of parents reported that their child with Down syndrome had no friends although half reported two or more friends. Factors affecting number of friendships included the child's functional ability, behavioural issues and parent's availability of time. Those children with higher functional independence scores in daily tasks were more likely to have two or more friends than those with lower functional independence scores (OR: 1.02, 95%% CI 1.01–1.04 for a single point increase in WeeFIM score). All children participated in predominantly solitary and sedentary leisure activities.

Conclusions.?Leisure participation was affected by complex factors both within and external to the child with Down syndrome. Further investigation of the relevance of these factors to leisure may enable more satisfying and meaningful participation in leisure for school-aged children with Down syndrome.     

Resilience in families with a member with chronic pain: a mixed methods study

Aims and objective. To measure and explore between 2007–2010 measure and explore the nature of family resilience in the context of families with a member with chronic pain. Background. Chronic pain impacts on the entire family. The literature suggests that it is possible to strengthen resilience in individuals with chronic conditions, but little is known about the impact of chronic pain on family resilience. Design. A explanatory sequential mixed method study was undertaken. Methods. In the initial quantitative phase, assessment measures were administered using the Connor‐Davidson Resilience Scale, Family Impact of Pain Scale, Medical Outcomes Study Short Form 36 and Medical Outcomes Study Social Support Survey. Data were collected and analysed from 31 family cases (n = 67 participants). In the second, qualitative phase, follow‐up semi‐structured interviews were undertaken with 10 families to help explain the quantitative results. Results. The impact of pain on the family was high overall, but the perceived impact was greater for the person with pain. Resilience scores were above average for both the person with pain and other family members. However, the person with pain scored lower on the resilience scale than other members of the family. The families scored high for social support overall, while the person with pain perceived they had greater support than their family members. Conclusions. Identifying the strengths or resilient properties inherent in families and using those strengths in the planning and implementation of care, especially of chronic conditions such as chronic pain, is pivotal to quality health outcomes. Relevance to clinical practice.  It is important that nurses and healthcare professionals include family members when planning and delivering care for persons with chronic pain. Identification of strengths within families can help tailor nursing interventions to meet family needs.     

唐氏综合征胎儿遗传学超声指标分析

目的分析唐氏综合征(DS)胎儿各项遗传学超声指标发生情况及超声特征,拟在中孕期通过遗传学超声检测各项指标来提高DS的产前筛查率。方法通过对42例染色体核型分析证实为21-三体DS胎儿的产前、产后超声声像图进行研究分析各项遗传学超声指标。结果 42例DS胎儿中有88.1%(37/42)单独或合并存在结构畸形、鼻骨发育不良、颈项透明层或颈褶增厚、第5指中节指骨发育不良、股骨肱骨短、肾盂分离、心室点状强回声、草鞋足等遗传学超声指标。结论中孕期遗传学超声检测各项遗传学超声指标是提高DS胎儿产前筛查的一个有效措施。     

癌症患者家庭适应性与家庭坚韧力、社会支持的相关研究

目的调查癌症患者家庭的适应性现状,结合家庭韧性理论探讨癌症患者家庭适应性与家庭坚韧力、社会支持的相关性。方法采用一般资料调查表、家庭适应性量表、家庭坚韧力量表和社会支持评定量表对130例癌症患者家庭进行问卷调查。结果癌症患者家庭适应性得分为(49.55±5.93)分,低于国内常模(P0.05)。癌症患者家庭适应性与家庭坚韧力总分及各维度、社会支持总分及各维度均呈正相关。结论癌症患者家庭的适应水平较低,应加强对癌症患者家庭适应性的关注;提高其家庭坚韧力和社会支持水平,可促进家庭的积极适应。     

Down syndrome with an unusual etiology: case report and review

PURPOSE: To present the genetic etiology of an unusual case of Down syndrome, arising from translocation of chromosome 21 to chromosome 9; to discuss advanced genetic diagnostic techniques, focusing on how pinpointing a specific genetic mistake can influence treatment and outcome; and to review the role of the nurse practitioner (NP) in caring for families of children with Down syndrome. DATA SOURCES: Case report, literature review, and advanced genetic techniques. CONCLUSIONS: NPs often answer patient questions regarding genetic abnormalities and risk factors for transmission of genetic errors to offspring. Advanced genetic analysis allows for the diagnosis of unusual causes of common genetic disorders. The ability to identify a specific genetic mistake and to predict the scope of its effect on an individual offers health care providers the opportunity to develop a case-by-case plan of care. IMPLICATIONS FOR PRACTICE: NPs have a responsibility to be informed about the processes involved in the transmission of genetic errors and about the subtleties of various expressions of a genetic disorder. The availability of new genetic-testing techniques allows NPs to individualize patient care and family teaching.     

Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.     

Consonant and syllable complexity of toddlers with Down syndrome and mixed-aetiology developmental delays

Abstract

This study examines whether speech sound production of toddlers with Down syndrome (DS) is on par with or more severely impaired than that of mental age (MA) peers with developmental delay due to aetiologies other than Down syndrome at two points within an 18-month period near the onset of spoken word production. The utterances of 26 children with DS, aged 24–33 months, with a mean MA of 14.3 months, originally studied by Fey et al. and Warren et al. were compared to those of a group of 22 children with similar intellectual and communication delay but no DS (NDS). Phonological measures included the size of the consonant inventory, syllable shape complexity, and number of communication acts with canonical vocalizations. At Time 1, the DS group performed as well as or better than the NDS group on these measures of speech production. At Time 2, 18 months later, the DS group was behind the NDS group on the same measures. Results extended the pattern of more severe impairment in children with DS than NDS peers commonly noted in expressive language to measures of phonological development.     

Influencing physiotherapy student attitudes toward exercise for adolescents with Down syndrome

Background.?Negative attitudes of physiotherapists may prevent them from implementing exercise as an intervention among people with disabilities. The aim of this study was to examine whether physiotherapy student attitudes towards the barriers to exercise for adolescents with Down syndrome changed as a result of participating in a 10-week exercise programme.

Method.?Data were collected as part of a randomised controlled trial. Twenty physiotherapy students (2 men, 18 women; mean age 19.5±1.3 years) volunteered to act as mentors. Each mentor was matched with an adolescent with Down syndrome from the same metropolitan suburb, who had been randomly allocated to either the intervention or the control group. The 10 adolescents and students in the intervention group all completed a 10-week, twice a week progressive resistance exercise training programme. The 10 adolescents and students in the control group continued with their usual activities. The students completed the 18-item Exercise Barriers Scale at baseline and after 10 weeks.

Results.?There was a positive change in attitudes, significant at the p <0.05 level, favouring the intervention group on 9 of the 18 items on the Exercise Barriers Scale.

Conclusions.?After engagement in a 10-week exercise programme with an adolescent with Down syndrome, physiotherapy students identified fewer barriers that would prevent adolescents with Down syndrome from exercising. Results indicate that contact with adolescents with Down syndrome during clinical placement can positively influence attitudes towards exercise for people with Down syndrome among physiotherapy students.