Typical Sibling Research Articles

A case report of Indian siblings with short stature due to novel variant in the CEP57 gene, causing Mosaic Variegated Aneuploidy Syndrome Type 2 and review of the phenotype of related patients

IntroductionMosaic Variegated Aneuploidy Syndrome 2 (MVA2) is a rare genetic disorder characterized by a variable percentage (25–50%) of constitutional mosaic aneuploidies. To our knowledge, only 15 cases worldwide with only 1 Indian family and six pathogenic variants of MVA2 have been described.Clinical featuresWe now report a 2nd Indian family with two female siblings who presented with short stature, dysmorphism, microcephaly, and a history of consanguinity.Diagnosis and interventionKaryotyping was reported to be normal (46, XX) in both siblings. Whole exome and Sanger sequencing revealed a homozygous c.1388_1391del(p.Lys463IlefsTer3) in exon 11 in the CEP57 gene (NM_014679.5), a novel variant that leads to the termination of protein translation causing MVA2. Testing of a phenotypically typical sibling showed a heterozygous status for the identified variant.ConclusionThis report highlights an important lesson for genetic testing. Our findings enrich the CEP57 mutational spectrum and emphasize the importance of genetic testing and karyotyping in patients with microcephaly and short stature.

Exploring the Differences Between Only Children, Typical Siblings, and Siblings With Disabilities on Psychological and Family Systems Constructs

The purpose of this study was to measure the identity development of individuals who had siblings with disabilities. We compared three sub-populations, namely, only children, individuals who had typical siblings, and individuals who had siblings with disabilities. We developed a survey that included questions on attachment, identity, socio-emotional development, family dynamics, sibling relationships, and responsibility toward siblings with disabilities. Totally, 338 participants completed the survey; out of which 145 had siblings with disabilities, 104 had typical siblings, and 89 were only children. Our results demonstrated that participants differed on several key aspects, including asking for help, expressing emotions, formation, and reliance on friendships, reliance on parental figures, receiving attention from parents, expectations from parents, and reaction to the diagnosis. Our study is one of the few studies that has explored the differences in identity development, socio-emotional development, and family dynamics in adults who are only children, individuals with typical siblings, and individuals with siblings with disabilities. Our study extends the literature in understanding sibling relationships and responsibilities toward siblings with disabilities.

Sibling Relationships in Families of Autistic and Typical Children: Similarities and Differences in the Perspectives of Siblings and Mothers.

This study investigates mothers' and siblings' perspectives regarding similarities and differences in siblingships with and without autism. Twenty-nine typical children (Mage = 8.78years, SD = 2.05) whose younger siblings have a diagnosis of autism and their mothers constituted the 'autism group.' Forty-six typical children (Mage = 9.12years, SD = 2.06) with younger typical siblings and their mothers constituted the 'typical group'. Children and mothers completed the Sibling Relationship Questionnaires and were interviewed. Children's reports illustrated similarities in sibling relationships across groups, with no between-group differences in overall warmth, conflict, rivalry, or relative power in the sibling relationship. Mothers of autistic children reported their children to have less warmth and closeness (F(1,72) = 5.63, p = .02, η2 = .073) and less conflict (F(1,72) = 6.66, p = .012, η2 = .085) with their siblings than mothers of typical children. More disagreement was found between mothers and children in the autism group than in the typical group. Mothers and children reported less intimacy and less quarreling between the siblings in the autism group than in the typical group. The qualitative analysis suggests that siblings focused on the present experience, while mothers also referred to processes in the sibling relationship. Interviewees in the autism group referred to various specificities in the siblingships without explicitly using the term "autism". The findings highlight a typical-like experience for siblings of autistic children. At the same time, mothers' perspectives emphasize differences and challenges in siblingships, reporting a pattern of decreased involvement. It is important to consider both perspectives in research and clinical work with families of autistic children.

Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype

Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances in precision medicine. As such, the goal of the present study was to leverage both simple and computationally-advanced approaches to validate an eye-tracking measure of social attention preference, the GeoPref Test, among 1,863 ASD, delayed, or typical toddlers (12–48 months) referred from the community or general population via a primary care universal screening program. Toddlers participated in diagnostic and psychometric evaluations and the GeoPref Test: a 1-min movie containing side-by-side dynamic social and geometric images. Following testing, diagnosis was denoted as ASD, ASD features, LD, GDD, Other, typical sibling of ASD proband, or typical. Relative to other diagnostic groups, ASD toddlers exhibited the highest levels of visual attention towards geometric images and those with especially high fixation levels exhibited poor clinical profiles. Using the 69% fixation threshold, the GeoPref Test had 98% specificity, 17% sensitivity, 81% PPV, and 65% NPV. Sensitivity increased to 33% when saccades were included, with comparable validity across sex, ethnicity, or race. The GeoPref Test was also highly reliable up to 24 months following the initial test. Finally, fixation levels among twins concordant for ASD were significantly correlated, indicating that GeoPref Test performance may be genetically driven. As the GeoPref Test yields few false positives (~ 2%) and is equally valid across demographic categories, the current findings highlight the ability of the GeoPref Test to rapidly and accurately detect autism before the 2nd birthday in a subset of children and serve as a biomarker for a unique ASD subtype in clinical trials.

Problemas emocionais e comportamentais em irmãos de indivíduos com transtorno do espectro autista (TEA): uma proposta de intervenção para promoção de saúde mental

Neurotypical siblings of individuals diagnosed with autism spectrum disorder (ASD) are at greater risk of developing emotional and behavioral problems (EBP). There is no proposed intervention in the literature for EBP of individuals with siblings diagnosed with ASD, despite its higher risk for mental health problems. Here are the objectives of this study: 1. to evaluate EBP in neurotypical siblings of individuals with ASD and to compare the report with the version of the parents and/or caregivers; 2. implement a psychoeducational intervention with the siblings to promote mental health. The sample will be 30 neurotypical siblings, aged between 11 and 16, of individuals diagnosed with ASD and their respective parents and/or caregivers. The instruments will be the ASEBA System: the Youth Self Report/11-18 (YSR) for self-report and the Child Behavior Checklist/6-18 (CBCL) for the parents’ report. This study is based on the assumption that there are high levels of pre-intervention EBP, a disagreement between parents and children according to the adolescents’ EBP, in addition to a positive correlation of increased EBP and a greater commitment of siblings with ASD. After the intervention, an improvement in EBP is expected. Method: Pre and post intervention evaluation with YSR and CBCL. The intervention, to be carried out with typical siblings, will consist of 24 weekly sessions of 50 minutes each, in a group, with a total duration of six months. The intervention proposal is: session 1 and 2: contract, greeting and establishment of bond; sessions 3 to 10: psychoeducation about depression and anxiety (characterization of the clinical condition) and the importance of seeking help; sessions 11 to 13: experience reports (communicate concerns); sessions 14 to 16: psychoeducation of coping skills; sessions 17 to 19: strategies to promote mental health and quality of life; sessions 20 and 21: summary of psychoeducation of coping skills; sessions 22 and 23: promotion of coping skills booklets; session 24: closing and participant feedback. At the end of the intervention, a decrease in EBP scores of typical siblings is expected.

Implications of a Child with Autism and Maternal Distress on the Psychological Adjustment of his Typical Siblings


 
 To compare the psychological adjustment of typical siblings of children with autism and siblings of “Children without Autism” within the context of their mothers’ distress. Study Design: Comparative cross-sectional study. The study was conducted in institutes dealing with children with Autism in Lahore Children with autism were identified and their typical siblings and counterparts of siblings were then tested for their psychological adjustment; mothers were tested for their distress. Childhood Autism Rating Scale was used for the assessment of the severity of autism. Strengths and Difficulties Questionnaire was used to assess the psychological adjustment of typical siblings. Depression Anxiety and Stress scale was used to assess mothers’ psychological distress. Analyses revealed that typical siblings of autistic children had significantly poorer <.001psychological adjustment M=20.59(4.16) than siblings of “Children without Autism” M=14.98 (7.3) and their mothers showed significantly <.01 greater stress M=19.22 (8.24) than mothers of “Children without Autism”15.32 (6.02). Having a child with autism significantly predicted psychosocial functioning. Maternal distress moderated the relationship between having a sibling with autism and the psychological adjustment of typical siblings. Maternal depression and stress also had a significant effect on psychological adjustment and pro-social behavior of siblings. A child with autism has serious psychological implications for his typical siblings and mothers in comparison to siblings and mothers of “Children without Autism” and they do need professional help to provide quality care to a child with autism and improve their psychological wellbeing.
 

The sibling relationship after acquired brain injury (ABI): perspectives of siblings with ABI and uninjured siblings

ABSTRACT Primary Objective This study explored the sibling relationship across the lifespan after acquired brain injury (ABI). Research Design A qualitative approach was used to explore the perspectives of siblings with ABI and uninjured siblings. Methods and Procedures Semi-structured interviews with 19 siblings with ABI and 20 uninjured siblings (aged 6–61 years) were analyzed using reflexive thematic analysis. Main Outcomes and Results Four themes were identified: Living with ABI; Being normal siblings; Being part of a family; Experiencing social stigma of ABI. ABI was a traumatic event which differentiated siblings but increased understanding helped accommodate its impact. This impact was experienced within perceptions of typical sibling relationships as involving closeness and conflict. The family context shaped relationships, with parents mediating across the lifespan, while siblings’ partners and children contributed to adult sibling relationships. Finally, social stigma led to distance but also protectiveness between siblings. Conclusions The sibling relationship was experienced as a continually evolving source of closeness and conflict within the family context. ABI enhanced preexisting dynamics and created new dynamics, shaped by social attitudes toward ABI. Increased understanding of ABI supported closer relationships, highlighting a need for psychoeducational interventions across the lifespan.

The Relationship Between Personality Traits and Coping Strategies in a Sample of Siblings of People With and Without Intellectual Disability: The Mediating Role of Sibling Relationship Quality

Background: The quality of sibling relationships is an important factor in the development of individuals, particularly in the context of a relationship with a brother or sister with disabilities. Aims: This research aims to assess the moderating role of the quality of the relationship with siblings between personality traits and coping strategies. Methods: The participants were 187 adults, of whom 97(51.9%) were Individuals with brothers or sisters with intellectual disabilities (S-IDs), aged 18 to 60 years (M=30.22; SD=12.17). The second group was 90 (48.1%) Individuals with typical developmental siblings (S-TDs) aged 18 to 76 years (M=28.56; SD=11.66). Respondents completed the Big Five Questionnaire (BFQ), the Coping Orientation to Problem Experiences (COPE), and the Adult Sibling Relationships Questionnaire (ASRQ). Results: The data show a correlation between personality traits and coping strategies. In addition, the size of the ASRQ was found to moderate the relationship between personality traits and coping strategies, albeit in a different way between the two groups. Conclusion: The quality of the reality with brothers or sisters turns out to be an important factor in the development, and it is found to mediate the relationship between personality traits and the development of coping strategies, both in S-TDs and S-IDs, presenting similarities and differences. Future research guidelines have been discussed.

How Middle-Aged Siblings of Adults with Intellectual Disability Experience their Roles: a Qualitative Analysis

In many aging families, siblings provide important support to adult brothers or sisters with an intellectual disability. However, this presents new challenges that are affected by past relationships and roles, as well as by the current situation and changes brought on by aging. This study aims to explore the ways in which middle aged typical siblings of adults with intellectual disability shape and perceive their role within the aging family. An interpretive phenomenological analysis was used. Data collection was performed through in-depth, semi-structured interviews with 17 middle aged siblings of adults with intellectual disabilities, followed by a thematic content analysis. Four themes were identified: (1) Sibling multiple roles along the life course; (2) The sibling’s role in the changing alignment of aging families living with disabilities; (3) A retrospective examination of the sibling’s responsibility; and (4) What does the future hold for siblings? Middle aged siblings in the aging family cope with multiple roles, which may elevate caregiving loads. At this point of their life, middle aged siblings come to acknowledge the complexity of their experience that involves love, compassion, stress, and burden at the same time.

Evaluation of the Diagnostic Stability of the Early Autism Spectrum Disorder Phenotype in the General Population Starting at 12 Months

Universal early screening for autism spectrum disorder (ASD) in primary care is becoming increasingly common and is believed to be a pivotal step toward early treatment. However, the diagnostic stability of ASD in large cohorts from the general population, particularly in those younger than 18 months, is unknown. Changes in the phenotypic expression of ASD across early development compared with toddlers with other delays are also unknown. To examine the diagnostic stability of ASD in a large cohort of toddlers starting at 12 months of age and to compare this stability with that of toddlers with other disorders, such as developmental delay. In this prospective cohort study performed from January 1, 2006, to December 31, 2018, a total of 2241 toddlers were referred from the general population through a universal screening program in primary care or community referral. Eligible toddlers received their first diagnostic evaluation between 12 and 36 months of age and had at least 1 subsequent evaluation. Diagnosis was denoted after each evaluation visit as ASD, ASD features, language delay, developmental delay, other developmental issue, typical sibling of an ASD proband, or typical development. Diagnostic stability coefficients were calculated within 2-month age bands, and logistic regression models were used to explore the associations of sex, age, diagnosis at first visit, and interval between first and last diagnosis with stability. Toddlers with a non-ASD diagnosis at their first visit diagnosed with ASD at their last were designated as having late-identified ASD. Among the 1269 toddlers included in the study (918 [72.3%] male; median age at first evaluation, 17.6 months [interquartile range, 14.0-24.4 months]; median age at final evaluation, 36.2 months [interquartile range, 33.4-40.9 months]), the overall diagnostic stability for ASD was 0.84 (95% CI, 0.80-0.87), which was higher than any other diagnostic group. Only 7 toddlers (1.8%) initially considered to have ASD transitioned into a final diagnosis of typical development. Diagnostic stability of ASD within the youngest age band (12-13 months) was lowest at 0.50 (95% CI, 0.32-0.69) but increased to 0.79 by 14 months and 0.83 by 16 months (age bands of 12 vs 14 and 16 months; odds ratio, 4.25; 95% CI, 1.59-11.74). A total of 105 toddlers (23.8%) were not designated as having ASD at their first visit but were identified at a later visit. The findings suggest that an ASD diagnosis becomes stable starting at 14 months of age and overall is more stable than other diagnostic categories, including language or developmental delay. After a toddler is identified as having ASD, there may be a low chance that he or she will test within typical levels at 3 years of age. This finding opens the opportunity to test the impact of very early-age treatment of ASD.

Siblings, Disability, Genre in Jennifer Egan's Manhattan Beach

Jennifer Egan is known for her formal and thematic virtuosity, a constant reinvention that makes each of her novels feel fresh and surprising. “If I've read it or done it before then I'm not interested,” she claims, describing an “aesthetic … guided by curiosity and desire” (Julavitz). But this isn't the whole story; an exacting reader will find familiar threads running through Egan's fiction. Among the most consistent is an interest in siblings (or cousins, in The Keep): how their relationships evolve over time, as they develop horizontal intimacies apart from the world of parents, and how they negotiate various forms of inequality—for instance, how a more typical sibling contends with a beloved other who is ill or disabled. These themes carry over into Egan's most recent novel, Manhattan Beach. Although many reviewers described it as an abrupt departure (Franklin; O'Rourke; Charles), the novel is consistent with Egan's previous work in featuring a disabled sibling and in being concerned with how genre—whether mystery, romance, PowerPoint presentation, or text message—shapes family dynamics. But where earlier projects are marked by unexpected generic combinations, Manhattan Beach hews closely to the contours of two interrelated forms: the historical novel and literary sentimentalism. At the heart of its thick portrait of a particular time and place is a sibling relationship that becomes an occasion for exploring the possibilities and limitations of genre.

Perceptions of non-caregiving roles among siblings of adults with intellectual and developmental disabilities

Siblings have the longest familial tie. Further, when a disability is present in the family, siblings may also fulfil various roles for their brothers and sisters with intellectual and developmental disabilities, such as friend, role model, caregiver, and guardian. To date, most research has focused on the caregiving roles of siblings. However, many siblings do not anticipate fulfilling caregiving roles; yet there is little extent research examining the perceptions of adult siblings toward non-caregiving roles. Thus, it is important to identify other perceived roles of adult siblings of individuals with intellectual and developmental disabilities. This study involved the secondary analysis of a national dataset of 70 non-caregiving, adult siblings of individuals with intellectual and developmental disabilities in the United States. Such perceived roles included supporter, typical sibling, no role, service coordinator, guardian, advocate, and emergency contact person. Implications for future research and practice are discussed.

The experience of siblings of individuals with CHARGE syndrome

ABSTRACTBackground We investigated the experience of siblings of children with CHARGE syndrome (n = 29). Siblings of children with a disability are an understudied population, and, to our knowledge, this is the first investigation of the sibling relationship in CHARGE.Method Participants were asked to complete 5 measures: (a) Sibling Evaluation Questionnaire, (b) UCLA Loneliness Scale, (c) Network Orientation Scale, (d) Family Hardiness Index, and (e) Family Member Well-Being Index.Results Participants accepted their sibling with CHARGE, with the relationship being neither highly negative nor positive. Although siblings reported to be somewhat less lonely, they were no less likely to access social support than college-aged peers. Participants did not indicate adjustment issues; however, more than half of the siblings reported avoiding adding to their parents’ stress. Further, they rated their own personal wellbeing very positively.Conclusion In spite of acknowledging stress within the family, these siblings represent themselves as well adjusted with a somewhat typical sibling relationship.

I'll Give You the Sun by J. Nelson

Nelson, Jandy. I'll Give You the Sun. New York: Dial Books, 2014. Print.At thirteen, twins Noah and Jude seem to share an unbreakable bond that goes beyond a typical sibling relationship. Three years later, at sixteen, they are barely speaking to each other; each holding on to secrets that could completely destroy or heal their fractured relationship.A winner of the 2015 Printz Award for Excellence in Young Adult Literature and a 2015 YALSA Top Ten Best Fiction for Young Adults pick, I’ll Give You the Sun, is an absorbing, coming-of-age tale told from the alternating perspectives of Jude and her brother Noah. Nelson skillfully pieces together a picture of the lives of the two protagonists as they struggle to come to terms with love, loss and alienation.Nelson blends poetic phrases and description with believable dialogue creating two distinct characters that readers will quickly identify with. The voices of Noah and Jude are so finely crafted that readers will find themselves drawn to the struggles and triumphs of these two characters. The use of non-linear plot progression will keep readers absorbed until the last page.I’ll Give You the Sun is an excellent choice for the high school reader, particularly those ready to transition to adult contemporary fiction. Nelson sensitively and frankly deals with issues such as sexual abuse, sexual orientation, bullying and infidelity. Due to the themes and topics of the book, it should be considered a mature read.Readers who enjoy authors such as John Green or A.S. King will be drawn to the writing of Jandy Nelson and I’ll Follow The Sun.Highly Recommended: 4 out of 4 starsReviewer: Rachel WildRachel Wild is an English teacher at Parkland Composite High School in Edson, Alberta. She is currently enrolled the Teacher Librarianship Masters degree program through distance education. Reading and reviewing a plethora of young adult novels has renewed her interest in and passion for this genre.

Effects of Video Modeling and Feedback on Mothers' Implementation of Peer‐to‐Peer Manding

Children with autism spectrum disorder (ASD) exhibit deficits in appropriate requesting such as manding to peers. Experiment 1 used feedback and modeling to train three mothers to increase manding between three children with ASD and their typical siblings or peers. Video modeling and feedback increased the mother's correct implementation of the treatment but a causal relation was not established over the children's manding. Experiment 2 aimed to address the lack of functional control observed in the children's data using a partial component analysis. For one of the children there was a functional relation between the materials' location, which appeared to act as a motivating operation. When Sam's mother positioned the materials correctly his manding increased. These data indicated that a simple training protocol could be used to train caregivers to implement a complex social skill such as peer‐to‐peer interaction. Copyright © 2015 John Wiley & Sons, Ltd.

A community support program for children with autism and their typically developing siblings: Initial investigation.

Siblings are a critical part of lifelong support for individuals with autism spectrum disorder (ASD). But siblings face their own social-emotional adjustment needs. These needs may be addressed through programs that include support groups specifically for the siblings. This study examined the effects of a community program on typical siblings' depression, anxiety, ASD knowledge, and peer network as well as reciprocal interactions between the typical sibling and sibling with ASD. The program provided a sibling support group, a skills intervention for children with ASD, and an inclusive recreation time. Siblings reported significant decreases in depression and physiological anxiety and improvements in their peer network. Autism knowledge increased but only approached significance. Direct observations revealed improvement in reciprocal interactions by most children that did not reach statistical significance. Parents, typical siblings, and interventionists indicated positive reactions to the program and its goals and outcomes. Findings are discussed in terms of the need to continue to explore interventions for siblings of children with ASD.

Correlation of vitamin D levels with burden of white matter lesions in individuals with Prader-Willi syndrome

Objective: Vitamin D has a variety of roles, including bone metabolism, calcium homeostasis, immunomodulation, anti-inflammation, and possibly neuroprotection. Neuroimaging has shown that hypovitaminosis D may cause more rapid progression and increased severity of white matter hyperintensities (WMH) in some populations. Individuals with Prader-WIlli syndrome (PWS) often have inadequate vitamin D intake, so we investigated if the burden of WMH in PWS is associated with hypovitaminosis D. Design/Methods: We evaluated brain MRI’s of 20 individuals with vitamin D levels measured at the time of the scan, who were between ages 5 and 46 years and had PWS (n = 17) or were typical siblings (n = 3). The presence and number of WMH were correlated with vitamin D. Results: Serum vitamin D levels were inversely correlated with the presence and number of WMH (0.025) in individuals with PWS and controls, as well as the progression of WMH ( p = 0.029) in PWS. Additionally, vitamin D levels correlated with cognitive scores in PWS ( p < 0.01). Conclusions: The results of this small study support that vitamin D has neuroprotective effects influencing the development and progression of WMH even in the pediatric population. Studies should be done in children with high prevalence of vitamin D deficiency such as obesity. Normal 0 false false false EN-US ZH-CN X-NONE

Examining the Benefit of Including a Sibling in Story-Based Intervention With a Child With Asperger Syndrome

Purpose: Story-based interventions have been used to address the social, communicative, and behavioral impairments that are characteristic of autism spectrum disorder (ASD). However, no studies have examined the potential benefit of including a typically developing child, such as a sibling, in this type of intervention. Method: This case study examined the social validity of using comic strip conversations (CSCs) for a 6year-old boy with Asperger syndrome and his typically developing younger brother to address conflict in a home setting. The 2 boys received separate adultmediated CSC sessions around several discrete events involving the common theme of sibling conflict. Quantitative subjective ratings of behavior change action and social communication and the presence of restrictive or repetitive behaviors, interests, and activities (American Psychiatric Association [APA], 2013). A universal feature of ASD involves challenges in theory of mind (ToM), which can be thought of as the ability to read and accurately interpret the thoughts and feelings of the self and others (Kuoch & Mirenda, 2003). Many researchers have argued that ToM deficits represent the core cause of the aforementioned triad of ASD impairments (e.g., Baron-Cohen, 1995; Baron-Cohen, Leslie, & Frith, 1985). One popular approach to support ToM development makes use of a class of story-based interventions, including social stories (Gray, 2010; Gray & Garand, 1993) and comic strip conversations (CSCs; were collected in the form of maternal daily diaries. Results: Tau-U analyses across A (baseline), B (CSC with child with ASD only), A (withdrawal), C (CSCs with both the child with ASD and the typical sibling), and A (withdrawal) phases of study indicated therapeutic changes in the child with ASD during Phase C that were maintained in the final withdrawal period. Dyad-specific experiences between siblings and the importance of adult mediation to triangulate shared meaning-making, promote social learning, and address sibling conflict are discussed. Limitations and directions for future research are also considered.

Typicality and Subtle Difference in Sibling Relationships: Experiences of Adolescents with Autism

Although researchers have explored siblings’ perspectives on their relationships with a brother or sister with autism, there is a lack of research on the perspective of the child with an ASD. We conducted semi-structured interviews with 12 adolescents with an ASD. Interpretative Phenomenological Analysis was used to analyse the data. Two major themes emerged from the analytic process: 1. Adolescents’ reports of seemingly typical sibling interactions, and 2. A typical sibling interactions influenced by having an ASD. Despite the social context reinforcing views that autism impacts the sibling relationship in an atypical way, the overwhelming sense from participants was of typical sibling relationships. The assumption of atypical relationships in families of children with autism may need to be re-evaluated.

Commentary: Advancing measurement of ASD severity and social competence: a reply to Constantino and Frazier (2013)

Commentary: Advancing measurement of ASD severity and social competence: a reply to Constantino and Frazier (2013)