Could I,should I? Parenting aspirations and personal considerations of five young women with 22q11.2 deletion syndrome

Background This phenomenological study explores the perceptions, hopes, and dreams of relationships and parenting of women with a genetic intellectual disability.

Method Five women with both 22q11.2 deletion syndrome (22q11DS) and intellectual disability took part in semistructured interviews. Their subjective interpretations were analysed using interpretative phenomenological analysis.

Results Four main themes emerged: (a) challenges and acceptance of having 22q11DS, (b) desire for social acceptance and normality, (c) welcoming of emotional and practical support, and (d) individuation. The themes describe the discordance between the challenges and acceptance of having a genetic disorder, the need to be “normal,” the importance and appreciation of social support, and the women’s aspirations for independence.

Conclusions Young women with 22q11DS approach their adulthood with a sense of optimism and personal competence yet recognise their unique challenges. Parental support is valued despite the need for independence. The findings provide insight into the lived experience of women with 22q11DS.     

Maternal responsivity in mothers of young children with Down syndrome

Objective: The purpose of this study was to examine maternal responsivity and directive behaviors in mothers of children with Down syndrome (DS).

Methods: Participants included 22 mothers with a young child with DS compared to 22 mothers of chronologically age-matched typically developing (TD) children using a cross-sectional design. The dyads participated in videotaped structured activities that were coded for responsive and directive behaviors.

Results: Results indicated that the mothers of children with DS used a more facilitative style with the older children while these behaviors decreased with older children with TD; one directive behavior, request for behavioral comply, increased with the older children with DS.

Conclusion: The mothers of children with DS adapted their parenting style to be facilitative of their children's linguistic development.     

A cross-sectional analysis of developmental trajectories of vocabulary comprehension among children and adolescents with Down syndrome or intellectual disability of undifferentiated aetiology

Background In this work we sought to expand our knowledge of developmental trajectories of subcomponents of the language systems of individuals with intellectual disability (ID). We aimed to explore how general and relational vocabularies evolve as a function of cognitive level.

Method Developmental trajectories of general and relational vocabulary comprehension were compared among typically developing (TD) children and children and adolescents with ID of undifferentiated aetiology (UND) or Down syndrome (DS).

Results Comparisons between TD participants and participants with UND showed no interaction between cognitive level and diagnostic status for general vocabulary, and only a very weak interaction for relational vocabulary. Comparisons between TD participants and participants with DS failed to reveal group-specific trajectories. Performance in general vocabulary was higher than in relational vocabulary for participants with UND and DS.

Conclusion The developmental trajectories of vocabulary appear to be globally comparable for participants with or without ID.     

An examination of interactions among children with autism and their typically developing peers

Objective: To determine whether pre-school children with Autism Spectrum Disorders (ASD) interact differently with their peers with ASD compared to their typically developing (TD) peers, across three activities (free play, structured group time and semi-structured play) in an early intervention setting.

Methods: We completed a series of non-experimental case studies involving 13 children with ASD and two TD peers.

Results: We found trends, but no uniform differences, in the frequency or quality of means by which the children with ASD interacted with one another versus with their TD peers across the three contexts. The children with ASD interacted with both peer types more frequently during the semi-structured and structured activities, than during free play.

Conclusions: The children with ASD showed no clear bias towards one peer type over the other. Semi-structured activities may be the best context in which to facilitate peer interactions involving children with ASD in early intervention settings.     

Clinical assessment of PTSD in children with mild to borderline intellectual disabilities: A pilot study

Objective: There are few studies regarding assessment and treatment of trauma-related disorders in people with intellectual disabilities (ID). The aims of this study were to determine (1) the feasibility of an adapted version of a post-traumatic stress disorder (PTSD)-clinical interview and (2) to what extent manifestation of PTSD in a sample of children with mild to borderline ID corresponds with four existing PTSD algorithms.

Method: Fifteen children who visited a special need school were interviewed.

Results: In all children, the full interview could be completed. Potentially traumatic events (A1 criterion), and PTSD symptoms for children with mild to borderline ID were similar to those observed in children without ID.

Conclusions: The manifestation of PTSD in children with mild to borderline ID corresponds with the manifestation of PTSD in children without ID. The data provide no reason to broaden PTSD criterion A1 for children with mild to borderline ID.     

Meaningful outcomes for enhancing quality of life for individuals with autism spectrum disorder

Background Autism spectrum disorder (ASD) is a developmental disorder that continues across the lifespan, but little research exists to examine interventions from both child and adult perspectives. The researchers in this study considered the perspectives of individuals with ASD and caregivers of children with ASD to determine interventions and outcomes perceived as meaningful for both children and adults.

Methods Grounded theory methodology was used to guide data collection and analysis. Participants included 5 parents of children with ASD and 5 adults with ASD. Data were collected through interviews.

Results A central theme of Intervention priorities for quality of life was supported. Individual themes identified from parents focused on future planning, community involvement, and scheduling and planning. Individual themes identified from the adults focused on misconceptions. Both groups shared the themes of acceptance; financial challenges; support, resources, and advocacy; skills learned; and socially and functionally based interventions.

Conclusion Results support interventions and resources for individuals with ASD focused on meaningful outcomes, including acceptance, community involvement, social success, independent living, and vocational/financial stability.     

Comparing acquisition of and preference for manual signs,picture exchange,and speech-generating devices in nine children with autism spectrum disorder

Objective: To compare how quickly children with autism spectrum disorder (ASD) acquired manual signs, picture exchange, and an iPad®/iPod®-based speech-generating device (SGD) and to compare if children showed a preference for one of these options.

Method: Nine children with ASD and limited communication skills received intervention to teach requesting preferred stimuli using manual signs, picture exchange, and a SGD. Intervention was evaluated in a non-concurrent multiple-baseline across participants and alternating treatments design.

Results: Five children learned all three systems to criterion. Four children required fewer sessions to learn the SGD compared to manual signs and picture exchange. Eight children demonstrated a preference for the SGD.

Conclusion: The results support previous studies that demonstrate children with ASD can learn manual signs, picture exchange, and an iPad®/iPod®-based SGD to request preferred stimuli. Most children showed a preference for the SGD. For some children, acquisition may be quicker when learning a preferred option.     

Self-reported sense of presence and responses to social stimuli by adolescents with autism spectrum disorder in a collaborative virtual reality environment

Background Collaborative virtual environments (CVEs) have the potential to support sociocommunicative interactions for people with autism spectrum disorder (ASD), but little is known about the sense of presence participants feel in CVEs or how CVEs can be used to assess skills.

Method Ten children with ASD and 10 typically developing (TD) children (aged 12–16 years) judged greeting behaviours of a human avatar and static facial expressions in a virtual gallery.

Results There were no differences in presence reported by the two groups. The ASD group was less sensitive to a negative greeting from the human avatar than the TD group, and impaired in recognising static facial expressions.

Conclusions Self-reported measures of presence are valuable for informing which kinds of tasks, and technology may provide more authentic contexts in which to identify and support social competence in participants with ASD.     

Is participation among children with intellectual disabilities in outside school activities similar to their typically developing peers? A systematic review

Objective: To compare the extent, context and experience of participation in outside school activities of children with intellectual disability (ID) and their peers with typical development (TD).

Methods: A systematic review was completed. Nine databases were searched and citation tracking performed. Included studies were in English, published in a peer-reviewed journal, used a quantitative study design and compared children with ID to children with TD. Studies were assessed for quality using 15 items from the Downs and Black quality checklist.

Results: Four papers were included. Participants were reported to have similar participation in leisure activities. Children with ID were reported to participate in fewer community-based social activities, recreational, family-enrichment and formal activities than children with TD.

Conclusion: Key differences in participation between the groups were identified. Given their methodological limitations and that most studies were published prior to the International Classification of Functioning, Disability and Health, further research is required.     

Acquisition and generalization of key word signing by three children with autism

Objective: The aim of this study was to examine the effect of Key Word Sign (KWS) intervention on the acquisition and generalization of manual signing among three children with Autism Spectrum Disorder (ASD), and to measure any changes in their production of spoken words and gestures following intervention.

Methods: A multiple baseline single-case experimental design was used to measure changes for each of the three children.

Results: All three children began using signs following the introduction of the KWS intervention, and generalized their use of some signs across activities. The introduction of the intervention was associated with either neutral, or statistically significantly positive, changes in the children’s production of spoken words and natural gestures.

Conclusion: The results provide preliminary evidence for the effectiveness of KWS for preschool children with ASD, which parents, therapists, and educators can use to inform clinical practice.     

Parentification of adult siblings of individuals with autism spectrum disorder: Distress,sibling relationship attitudes,and the role of social support

Background Typically developing (TD) siblings of individuals with autism spectrum disorder (ASD) often fulfil caregiving roles as children or adults (i.e., parentification, which can be either parent-focused or sibling-focused).

Method This study examines how parentification interacts with social support when predicting distress and sibling relationship attitudes in 60 TD adult siblings of individuals with ASD.

Results Perceived social support served as a moderator. Specifically, TD adult siblings who experienced high parent-focused parentification during childhood and low current social support were most likely to report high distress. TD siblings who reported low sibling-focused parentification during childhood and low current social support were most likely to report less positive attitudes about their relationships with their siblings with ASD.

Conclusions Current findings suggest that perceived social support may serve as a potential point of intervention for reducing distress and improving sibling relationship attitudes among adult TD siblings of those with ASD.     

A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder

Purpose: Autism spectrum disorder (ASD) is a group of developmental brain disorders caused by genetic and environmental factors. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) in genes related to immune function were associated with ASD in Chinese Han children.

Materials and methods: A total of 201 children with ASD and 200 age- and gender-matched healthy controls were recruited from September 2012 to June 2106. A TaqMan probe-based approach was used to genotype SNPs corresponding to rs28532698 and rs4301112 in CD157, rs855867 in AIM2, and rs2237126 in JARID2. Case-control and case-only studies were performed to determine the contribution of SNPs to the predisposition of disease and its severity, respectively.

Results: Our results revealed that the genotypes and allele frequencies of these SNPs were not significantly associated with childhood ASD and its severity in this population.

Conclusions: Results of our study suggest that these SNPs are not predictors of childhood ASD in the Chinese Han population. The discrepant results suggest the predictor roles of SNPs have to be determined in different ethnic populations due to genetic heterogeneity of ASD.     

Comparison of attitudes to the sexual health of men and women with intellectual disability among parents,professionals, and university students

Background This study investigates whether parents, professionals, and university students have different sexual attitudes towards men versus women with intellectual disability (ID) and which factors are related to such attitudes among these three groups.

Method A self-administered survey using the ASQ-ID questionnaire was implemented, and 130 parents, 173 professionals, and 645 university students completed it.

Results University students showed more positive attitudes than parents and professionals. Parents were more likely to have a positive perception of men with ID than of women with ID with regard to “parenting.” Whether they were parents, professionals, or university students was not correlated with their attitudes; instead, their attitudes were associated with participants' age, education, and religion.

Conclusions Awareness of sexual rights related to people with ID, especially women with ID, needs to be discussed among parents and professionals, particularly those in old age, with a low level of education, and those who follow the Buddhist religion.     

Ageing in people with intellectual disability as it is understood by group home staff

Background The number of older residents in group homes for people with intellectual disability (ID) is increasing. This interview study was focused on how group home staff address issues of ageing and being old among people with ID.

Method Twelve members of staff at 4 different group homes in Sweden were interviewed.

Results Findings revealed old age as something unarticulated in the group home. Group home staff felt unprepared to meet age-related changes in residents. The study also revealed that group home staff had a one-tracked way of describing the process of ageing among people with ID, which was seemingly rooted in a medical paradigm of disability.

Conclusion Based on this study's findings, we suggest that there is a need to raise issues and give guidance related to ageing and ID in disability policy documents to support the development of a formal culture that addresses old age and ID in disability services.     

Typically developing adolescents’ experience of growing up with a brother with an autism spectrum disorder

Background Researchers studying siblings of people with an autism spectrum disorder (ASD) suggest that growing up with an individual with disability has positive and negative effects.

Method Qualitative content analysis of semistructured interviews with 14 typically developing (TD) adolescents with a brother with an ASD and their mothers was used to explore the experience of growing up with a sibling with an ASD and identify differences in the relationship with, and attitude toward, the brother.

Results TD siblings expressed mixed feelings about their brother, a precocious sense of responsibility, concern about the future, friendship difficulties, and troubles and the desire to talk about their experience. Most adolescents integrated their positive and negative feelings; however, 3 adolescents displayed rejection, denial, or a sense of persecution.

Conclusions Qualitative research into the experiences of adolescent siblings of people with an ASD should be used to develop support programs to help adolescents manage their relationship with a sibling with a disability.     

Increased serum midkine levels in autism spectrum disorder patients

Background: Midkine (MK) is a heparin binding growth factor and is involved in neurogenesis, neural development and neuroprotection. Additionally, MK may contribute to cancer development and pathogenesis of neurodegenerative disorders and schizophrenia. Considering these effects of MK, this study researched whether MK is involved in autism spectrum disorders (ASD) pathogenesis.

Methods: We evaluated serum MK levels of 38 patients with ASD and 32 healthy control group. MK levels were measured with ELISA, while ASD severity was assessed with Childhood Autism Rating Scale.

Results: Our data showed that the serum MK concentration in ASD patients (mean ± SD, 11.51 ± 8.53 pg/ml) is significantly higher than healthy controls (mean ± SD, 6.19 ± 3.94 pg/ml) (p = 0.007).

Conclusions: According to these results, MK may play a role in ASD pathogenesis.     

The prevalence of intellectual disability among 1-year cohorts of Finnish elderly as determined with the multiple register method

Background Longevity is increasing among persons with intellectual disability (ID) simultaneously with that of the general population. There is a need to update prevalence figures of ID among the elderly. The aim of this study was to estimate the prevalence of ID among the elderly in Finland.

Method We combined data from 8 national health and social benefits registers to calculate the ID prevalence for age cohorts separated by 1-year intervals. We corrected a discontinuity due to loss of diagnostic information in the main registers at retirement age (65 years) by comparing the age distribution to that of the entire population.

Results The distribution correction more than doubled the number of persons with ID in this age group, resulting in an apparent prevalence of 0.75%.

Conclusions The 1-year interval between age cohorts proved useful in detecting discontinuities and permitted estimation. The new estimate for the prevalence of ID among the elderly is higher than those previously published, but congruent with the increasing life expectancy of elderly persons with ID.     

Prevalence of parents with intellectual disability in Australia

Background Parenting by people with intellectual disability is attracting increasing attention, and policymakers and service providers require empirical evidence to develop sound policy and service responses. The purpose of the study was to identify prevalence and demographic data on parents with ID in Australia compared with parents with other disabilities and the population of parents without disability.

Method The Survey of Disability, Ageing and Carers, 2009, was identified as the most suitable survey, and design-weighted analysis was performed.

Results An estimated 0.41% of Australian parents had intellectual disability, equating to 17,000 parents with ID. Parents with ID were more likely to have only 1 child and to reside outside a capital city compared with parents without disability.

Conclusions These findings provide benchmark data for monitoring, over time, the prevalence of parents with ID and point to policy and service responses for parents with only 1 child and for those in outer urban, regional, and rural areas of Australia.     

The feasibility of psychomotor therapy in acute mental health services for adults with intellectual disability

Background Psychomotor therapy enables people to reflect on the relationship between experiences and feelings by starting from awareness of bodily responses rather than from awareness of emotion. In this study we examine PsyMot (ID), an assessment that directs this psychological therapy.

Method Twelve suitable consecutive admissions were recruited from a specialist intellectual disability (ID) assessment and treatment unit for adults. Video-recordings of PsyMot (ID) allowed assessment of interrater reliability (IRR). Treatment goals indicated by PsyMot (ID) were addressed using psychomotor therapy as part of a comprehensive program of interventions.

Results Psychomotor therapy was both feasible and popular with patients who participated without any adverse effects. Nine patients completed PsyMot (ID). IRR of the treatment goals identified by all 3 raters was good to excellent in 81% cases, but there were discrepancies for individual items.

Conclusions PsyMot (ID) and psychomotor therapy is feasible within this context, and enriched the clinical team's formulation. Further studies of reliability and efficacy should be undertaken.     

A metacognitive training pilot study for adolescents with autism spectrum disorder: Lessons learned from the preliminary stages of intervention development

Background Cognitive differences, including deficits in self-awareness, are common in high-functioning individuals with autism spectrum disorder (ASD) and represent a fruitful target for intervention. The current project presents the preliminary research undertaken in the development of metacognitive training (MCT), an intervention designed to increase knowledge about personal strengths and challenges in adolescents with ASD.

Method Two groups of 4 adolescents with ASD completed MCT, as well as measures to assess satisfaction and adverse effects. Visual inspection and thematic analysis were used to interpret the data.

Results Overall, both participants and their parents rated MCT favourably; the youth most enjoyed the interactive activities, whereas parents appreciated the opportunity for socialising and psychoeducation. There were no systematic changes on quantitative measures of adverse effects (i.e. self-esteem or depression).

Conclusion Although the results suggest further investigation of MCT may be warranted, certain modifications to the MCT protocol and research methodology are needed.