Parents Of Individuals Research Articles

Social network analysis of the genealogy of strawberry: retracing the wild roots of heirloom and modern cultivars.

The widely recounted story of the origin of cultivated strawberry (Fragaria × ananassa) oversimplifies the complex interspecific hybrid ancestry of the highly admixed populations from which heirloom and modern cultivars have emerged. To develop deeper insights into the three-century-long domestication history of strawberry, we reconstructed the genealogy as deeply as possible—pedigree records were assembled for 8,851 individuals, including 2,656 cultivars developed since 1775. The parents of individuals with unverified or missing pedigree records were accurately identified by applying an exclusion analysis to array-genotyped single-nucleotide polymorphisms. We identified 187 wild octoploid and 1,171 F. × ananassa founders in the genealogy, from the earliest hybrids to modern cultivars. The pedigree networks for cultivated strawberry are exceedingly complex labyrinths of ancestral interconnections formed by diverse hybrid ancestry, directional selection, migration, admixture, bottlenecks, overlapping generations, and recurrent hybridization with common ancestors that have unequally contributed allelic diversity to heirloom and modern cultivars. Fifteen to 333 ancestors were predicted to have transmitted 90% of the alleles found in country-, region-, and continent-specific populations. Using parent–offspring edges in the global pedigree network, we found that selection cycle lengths over the past 200 years of breeding have been extraordinarily long (16.0-16.9 years/generation), but decreased to a present-day range of 6.0-10.0 years/generation. Our analyses uncovered conspicuous differences in the ancestry and structure of North American and European populations, and shed light on forces that have shaped phenotypic diversity in F. × ananassa.

New Feeding Assessment Scale for individuals with genetic syndromes: Validity and reliability in the CHARGE syndrome population.

To develop a feeding scale for parents/care givers of individuals of all ages with genetic syndromes experiencing extensive feeding and swallowing problems. Second, to assess its validity and reliability in CHARGE syndrome. The new Feeding Assessment Scale (FAS) was adapted from a scale for children who need prolonged tube feeding (Paediatric Assessment Scale for Severe Feeding Problems, PASSFP). Ten parents piloted the new scale before it was sent out with the PASSFP and feeding history questions. A subset completed the new scale again 4-8 weeks later. One hundred parents of individuals with CHARGE syndrome participated from around the world. The new scale had good construct validity, with a significant effect for an increased number of feeding risk factors having higher scale scores (P< 0.001). Face validity was high, as scores significantly differed between individuals whose parents identified their feeding difficulties as very mild, mild, moderate, severe and very severe (P< 0.001). Test-retest reliability (r=0.94, P< 0.001) and internal consistency (Cronbach's alpha 0.91) were both high. There was significant convergent validity between the new scale and the PASSFP (r=-0.79, P< 0.001). This new tool is reliable and valid for parents/care givers of individuals with CHARGE syndrome. It can be used to assess the current severity of feeding difficulties and to track progress before and after treatment. It expands upon previous existing tools in that it can be used in both individuals who are not tube fed, as well as in those who are, as well as across the life-span.

Comparative parenting stress measures between segmental and community-based rehabilitation services in parents of children and adolescents with intellectual and developmental disabilities (IDD): A cross-sectional survey

BACKGROUND: There is a dearth of information on the effects of different types (Segmental rehabilitation service (SRS) vs Community-based rehabilitation service (CRS)) on the parenting stress and family quality of life in parents of children who have individuals with intellectual and developmental disabilities (IDD).OBJECTIVE: This paper is to compare the effects of SRS and CRS on parenting stress and family quality of life in parents of individuals with IDD.METHODS: A cross-sectional design was used to examine parenting stress and family quality life in cohorts of 120 fathers and mothers of children with IDD who had received either SRS or CRS participated in the survey. The outcome measures included the modified Parenting Stress Index (PSI) and the modified Beach Center Family Quality of Life Scale (mBCFQLS). The Mann-Whitney test was performed at 0.05.RESULTS: A significant difference was observed in social stress in PSI between the SRS and CRS groups ( 0.03). The child rearing, emotional well-being, and physical and material well-being variables in mBCFQLS were different between the SRS and CRS groups ( 0.05), indicating superior benefits from CRS than SRS.CONCLUSIONS: These findings provide important information and about parenting stress and family quality of life in children with IDD, for developing effective rehabilitation programs and services for these parents.

The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 partially overlapping regions representing global-to-local facial morphology and then defined endophenotypic traits by contrasting the 3D facial images from 264 unaffected parents of individuals with NSCL/P versus 3,171 controls. We observed distinct facial features between parents and controls across 59 global-to-local facial segments at nominal significance (p ≤ 0.05) and 52 segments at Bonferroni corrected significance (p < 1.2 × 10–3), respectively. Next, we quantified these distinct facial features as univariate traits in another dataset of 8,246 unaffected European individuals and performed a genome-wide association study. We identified 29 independent genetic loci that were associated (p < 5 × 10–8) with at least one of the tested endophenotypic traits, and nine genetic loci also passed the study-wide threshold (p < 8.47 × 10–10). Of the 29 loci, 22 were in proximity of loci previously associated with normal facial variation, 18 were near genes that show strong evidence in orofacial clefting (OFC), and another 10 showed some evidence in OFC. Additionally, polygenic risk scores for NSCL/P showed associations with the endophenotypic traits. This study thus supports the hypothesis of a shared genetic architecture of normal facial development and OFC.

Anxiety characteristics in individuals with Williams syndrome.

Williams syndrome anxiety research predominantly focuses on disorder prevalence and symptomatology, categorised using standardised mental health classifications. However, the use of these assessments may not fully capture the phenotypic features of anxiety in Williams syndrome. In this study, we examined characteristics of anxiety using a formulation framework. A semi-structured interview was conducted with thirteen parents of individuals with Williams syndrome (median age: 19, age range: 12-45, 8 females). Various anxiety triggers were reported, including anxiety triggered by phobias, uncertainty and negative emotions in others. The range of described behaviours was diverse with both avoidant and active coping strategies for anxiety management reported. Many of the characteristics described were consistent with findings in the intellectual disability and typically developing literature, although novel information was identified. The study demonstrates the utility of a formulation framework to explore anxiety characteristics in atypical populations and has outlined new avenues for research.

The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder: An Observational Study.

Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions delivered in-person and routine disruption constituted some of the main challenges they had to face. This study investigated the impact of the COVID-19 lockdown on adaptive functioning, behavioral problems, and repetitive behaviors of children with ASD. In a sample of 85 Italian ASD children (mean age 7 years old; 68 males, 17 females), through a comparison with a baseline evaluation performed during the months preceding COVID-19, we evaluated whether after the compulsory home confinement any improvement or worsening was reported by parents of ASD individuals using standardized instruments (Adaptive Behavior Assessment System (Second Edition), Achenbach Child Behavior Checklist, Repetitive Behavior Scale-Revised). No significant worsening in the adaptive functioning, problematic, and repetitive behaviors emerged after the compulsory home confinement. Within the schooler children, clinical stability was found in reference to both adaptive skills and behavioral aspects, whereas within preschoolers, a significant improvement in adaptive skills emerged and was related to the subsistence of web-delivered intervention, parental work continuance, and online support during the lockdown.

Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.

Individuals with Phelan-McDermid syndrome (PMS) are characterised by phenotypical traits that can be experienced as challenging by their environment. This study assessed parenting stress and Family Quality of Life (FQOL) in parents of individuals with PMS and identified potential contributing variables. Mothers (n=14) and fathers (n=13) of individuals with PMS (n=14; 6 females, 8 males; age 2-37, M=20, SD=11.92) completed questionnaires on parenting stress, FQOL, adaptive behaviour and background characteristics. Mothers and fathers experienced high, similar and related levels of parenting stress and FQOL satisfaction. Parenting stress and FQOL satisfaction were inversely related. High and low ratings were retrieved for subscales measuring feelings of parental role restriction and emotional well-being, respectively. The adaptive skills of the individuals with PMS were related to fathers' parenting stress and FQOL satisfaction. Clinical practice is encouraged to be attentive to family dynamics and grasp opportunities to interact with these dynamics.

Parent Attitudes Toward Enhancing Cognition and Clinical Research Trials in Down Syndrome: A Mixed Methods Study.

As understanding of the neurobiological basis of cognitive impairment in Down syndrome (DS) advances and new pharmaceutical interventions targeting neurodevelopment become available, an in-depth understanding of the family perspective is essential to inform research efforts. A mixed methods study was conducted with parents of individuals with DS to learn about attitudes toward pharmacological interventions to enhance cognition, participation in clinical research trials in DS, and the relationship between child/family-specific factors and parent attitudes. Parents completed an online survey (N = 37) assessing family/child sociodemographic factors and to capture thoughts on cognitive enhancement and participation in clinical drug trials. A subset of interested parents participated in a follow-up phone interview (N = 21) or focus group (N = 3; 1 FG). Double-blind thematic analysis was used to analyze qualitative data. Parents' attitudes toward improving cognition, reversing intellectual disability, and participation in clinical trials correlated with each other and were informed by specific parent and child factors (e.g., child attention-deficit hyperactivity disorder/behavioral diagnosis and parent education). Qualitative themes included advantages, disadvantages, and ethical implications of enhancing cognition. In addition, themes emerged regarding the need to understand the mechanism and potential side effects of experimental drugs, logistical factors relating to willingness to participate in clinical trials, and the evolution of parents' attitudes over time. The findings highlight the complexity of issues and implications of clinical trials for enhancing cognition in DS. Child-specific factors, logistical and safety considerations, and personal belief systems all inform parent attitudes and decision making. The findings reflect the importance of incorporating parent perspectives and values in research direction and design.

Awareness among parents of individuals with intellectual disability about sexual health education.

Background:Most of the parents have no idea that how and when they should educate about sexual health to their typically growing children. It is important for parents to educate their children with intellectual disability about sexual health. The risk of sexual exploitation and abuse is very high in individuals with intellectual disability.Objective:The present study was conducted to find out the awareness among the parents of individuals with intellectual disability about sexual health education. Materials and Methods:Subjects for the present study were the parents of individuals with intellectual disability studying at government rehabilitation institute for intellectual disabilities, chandigarh (n = 100). The present study is a cross-sectional study and subjects were selected by making use of random sampling technique. A Rating scale on “Awareness on sexual health education for parents of intellectually challenged children” developed by Lakshmi and Navya, (2014) was used.Results:The results revealed that there is a significant difference in knowledge, attitude, and practice among the parents of individuals with intellectual disability about sexual health education. The significant difference with respect to the gender on awareness about sexual health education (knowledge, attitude, and practice) among the parents of individuals with intellectual disability was found. No significant difference with respect to family type on awareness about sexual health education was found.Conclusion:Parents who live in rural locality have responded greater on the knowledge and practice than those who live in urban locality. However, parents living in urban locality have scored more on attitude over the parents who live in rural locality.

دور البرامج الصیفیة فی تنمیة المهارات الاجتماعیة للأفراد ذوی اضطراب طیف التوحد من وجهة نظر أولیاء الأمور بمدینة جدة The Role of summer programs in developing social skills for individuals with autism spectrum disorder From the point of View of their Parents in Jeddah

هدفت الدراسة الحالية إلى الکشف عن دور البرامج الصيفية في تنمية المهارات الاجتماعية لدى الأفراد ذوي اضطراب طيف التوحد من وجهة نظر أولياء الأمور في مدينة جدة، حيث استخدم الباحثان الاستبانة کأداة للدراسة، على عينة مکونة من (66) من أولياء أمور الأفراد ذوي اضطراب طيف التوحد، الملتحقين بالبرامج الصيفية في مدينة جدة، ولتحقيق أهداف الدراسة أستخدم المنهج الوصفي المسحي، کما تم اختيار عينة الدراسة بالطريقة العشوائية. وتوصلت الدراسة إلى مجموعة من النتائج أبرزها : أن معظم أولياء أمور الأفراد ذوي اضطراب طيف التوحد يتفقون على أهمية المهارات الاجتماعية في حياة الفرد ذوي اضطراب طيف التوحد، وفي ضوء ما أسفرت عنه نتائج الدراسة، أوصى الباحثان بـما يلي: ضرورة التدريب على المهارات الاجتماعية، لما لها من دور کبير على الفرد ذوي اضطراب طيف التوحد، وأسرته، والمجتمع المحيط له؛ دعوة المراکز الخاصة والحکومية، لبناء برامج صيفية خاصة بالأفراد ذوي اضطراب طيف التوحد لتنمية مهاراتهم والحفاظ عليها. The current study aimed to reveal the role of summer programs in the development of social skills in individuals with autism spectrum disorder from the point of view of parents in Jeddah، where the researcher used resolution as a tool for study، on a sample of (66) parents of individuals with autism spectrum disorder، enrolled in summer programs in Jeddah، and to achieve the objectives of the study used the descriptive method، as the sample of the study was selected in a random way. The study reached a series of results، most notably: that most parents of individuals with autism spectrum disorder agree on the importance of social skills in the life of an individual with autism spectrum disorder، and in light of the results of the study، the researcher recommended the following: the need for training in social skills، because it has a great role on the individual with autism spectrum disorder، his family، and the surrounding community; To build summer programs for individuals with autism spectrum disorder to develop and maintain their skills.

A Pilot Study of Adult Disability Services and Legislative Advocacy Among Parents of Youth with Multiple Disabilities

Although parents of individuals with multiple disabilities have spearheaded legislation for students with disabilities, little is known about their legislative advocacy experiences with respect to adult disability policy and, relatedly, adult disability services. In this pilot study, we examined the perspectives and experiences of nine parents of youth with multiple disabilities with respect to legislative advocacy via two focus groups. Most participants had negative perceptions of their: legislators, adult disability policies, and, relatedly, adult disability services. Many participants suggested changes to increase the flexibility of Medicaid Home and Community Based Services. Directions for future research and practice are discussed.

The scope and nature of prolonged social withdrawal in Israel: An initial quantitative and qualitative investigation.

Objective:Over the past few decades, prolonged social withdrawal (PSW) among young people has been recognized in several countries. Most research has been quantitative and focused on the characteristics of PSW individuals and their families. Little attention has been given to the valuable perspective of professionals providing service to this population. The purpose of the present study is to identify the characteristics of PSW in Israel, where this phenomenon has not been researched yet. For this initial investigation, the study will utilize a combination of quantitative self-report data from parents of PSW individuals, as well as qualitative data gathered from interviews with mental health professionals who work with this population.Methods:Quantitative data were derived from records of referrals by parents of 121 PSW individuals, and later categorized into apparent characteristics of PSW. Qualitative data was collected through semi-structured interviews conducted with 19 professionals experienced in treating PSW, and later analyzed in a thematic analysis process.Results:Findings from the quantitative data revealed a majority of males (70%) with an average age of 24.2, with previously diagnosed psychiatric conditions (64%). Findings from the qualitative data exposed frequently reported characteristics of PSW individuals and their families, out of which five themes emerged: Family Dynamics, Psychological Characteristics, Typical Behaviors, Past Difficulties, and Present Challenges.Conclusion:This study is the first to identify and report characteristics of PSW in Israel, which are consistent with previous research reported in other countries. The study is highlighting familial characteristics as well as individual ones, while also considering the broader socio-cultural context. These findings draw attention to the importance of notifying the general public, clinicians, researchers, and policymakers in Israel and beyond to the concerning problem of PSW, while contributing to the efforts to develop a map of this barely explored territory.

School outcomes of adolescents with cerebral palsy in Sweden.

AimTo study school outcomes of adolescents with cerebral palsy (CP) compared with a matched comparison group from the general population, and to observe to what extent sociodemographic and disability‐specific factors are associated with school outcomes.MethodThis was a register study of persons with CP in Sweden, born between 1990 and 1999, with a matched comparison group. Logistic regressions were used to estimate the associations between CP and disability‐specific factors and school outcomes (receiving final grades, grade scores, fulfilling the requirements for progressing to secondary school/university, and attending secondary school).ResultsChildren with CP had substantially lower school achievement compared with a general population sample. Much of the difference can be attributed to intellectual disability; however, CP remained strongly negatively associated with school outcomes. Ability to communicate in an effective manner explained most of the variation in children with CP, whereas motor function played a smaller role.InterpretationThe results suggest that school achievements might be improved if the communication barrier could be reduced, for example by ascertaining access to appropriate communication devices and by educators being aware that communicative difficulties do not necessarily imply intellectual disability. This might enhance the school experience and create an environment where children with CP can reach their full potential.What this study adds There are reduced educational outcomes associated with cerebral palsy.Negative outcomes are mainly driven by reduced communicative and intellectual ability.Gross motor function is associated with outcomes, but plays a smaller part.

Measurement of Family Management in Families of Individuals With Down Syndrome: A Cross-Cultural Investigation.

Down syndrome (DS) is the most common genetic cause of intellectual disability worldwide. The purpose of this analysis was to determine the internal consistency reliability of eight language versions of the Family Management Measure (FaMM) and compare family management of DS across cultures. A total of 2,740 parents of individuals with DS from 11 countries completed the FaMM. The analysis provided evidence of internal consistency reliability exceeding .70 for four of six FaMM scales for the entire sample. Across countries, there was a pattern of positive family management. Cross-cultural comparisons revealed parents from Brazil, Spain, and the United States had the most positive family management and respondents from Ireland, Italy, Japan, and Korea had the least positive. The rankings were mixed for the four remaining countries. These findings provide evidence of overall strong internal consistency reliability of the FaMM. More cross-cultural research is needed to understand how social determinants of health influence family management in families of individuals with DS.

Failure on all fronts: Qualitative analysis of the oral health care experience in individuals with intellectual disability.

To explore the oral health care experience of individuals with intellectual disability and their families. A qualitative approach utilising face-to-face semi-structured interviews with parents of individuals with intellectual disability. All interviews were audio recorded and transcribed verbatim, and Qualitative Framework Analysis was used to present the results. Twenty-six parents of 26 individuals with intellectual disability were interviewed. The interviewees were 10 males and 16 females, and their average age was 46.4 ± 11.2years (range 28-66). The average age of individuals with intellectual disability was 17.9 ± 9.2years (range 6-48), and there were 11 (42.3%) males and 15 (57.7%) females. The interviewees reported that challenges to oral health care do occur on multiple levels: (a) home environment; (b) primary dental care; (c) secondary dental care facilities; (d) health and education policies and systems; and (e) societal views on individuals with intellectual disability. Individuals with intellectual disability and their families are being failed at multiple levels of oral health care, leaving parents feeling frustrated, isolated, and sometimes helpless. Collaborative efforts are needed to train families to prevent oral health disease at home, establish better primary and secondary oral health care systems, and overcome wider cultural, social, and economic barriers.

PRO117 The Development of a Conceptual MODEL on the IMPACT of Caring for an Individual with Nonsense Mutation Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disorder characterised by progressive muscle degeneration and weakness. Loss of muscle function starts early and worsens over time, resulting in loss of motor function and premature death. Individuals with DMD can require 24-hour care, but little is known about the extent to which this impacts the lives of their caregivers. This study explored the impact of caring for an individual with nonsense mutation DMD (nmDMD) before complete loss of ambulation. Qualitative interviews were conducted with caregivers of individuals with nmDMD treated with ataluren in the UK. An interview guide was developed with input from clinical experts and patient advocacy groups and included open-ended questions to elicit information on the impact of caring for an ambulatory individual with nmDMD. Interviews were conducted by telephone, recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. A conceptual model was developed to illustrate the reported caregiver experiences based on the data. Ten interviews were conducted with parents of individuals with nmDMD aged 4-19 years at various stages of ambulation. Caregivers reported both proximal and distal impacts. Proximal impacts were physical (e.g. lifting their child), emotional (e.g. anxiety/worry/stress) and time-related (e.g. administrative tasks). These were associated with a range of more distal impacts including the impact on work (e.g. time off work due to back pain), relationships (e.g. with partner) and social life. These impacts and relationships between them were illustrated in a conceptual model. Caring for an individual with nmDMD has a substantial multifaceted impact on the lives of caregivers and those around them. Treatments for individuals with nmDMD which have the potential to improve symptoms, reduce loss of function, or delay progression, may also have a positive impact on the quality of life of caregivers.

PRO136 Symptoms and Impacts of Nonsense Mutation Duchenne Muscular Dystrophy at Different Stages of Ambulation

Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disorder which causes progressive muscle degeneration and weakness, and leads to loss of motor function and premature death. The aim of this study was to understand the symptoms and impacts of nonsense mutation DMD (nmDMD) at different stages of ambulation. Semi-structured qualitative telephone interviews were conducted with caregivers of individuals with nmDMD treated with ataluren in the UK. The interviews explored the symptoms and impacts of nmDMD, as well as impacts on caregivers. Participants also completed a background questionnaire with questions which enabled categorisation into three different health states (HS) according to level of ambulation. Qualitative data were analysed using thematic analysis and symptoms/impacts were compared across HS. Ten interviews were conducted with parents of individuals aged 4-19 years. Six participants had children who were in an early ambulatory HS (can rise from supine, stand and walk 10 metres), three in a late ambulatory HS (can stand and walk 10 metres) and one in an intermediate HS (can stand). In line with the HS definitions, increasing HS severity was related to a decreasing physical function and independent action, such as the ability to walk, run/jump, climb stairs and get up off the floor, and increasing fatigue. This impacted the individuals’ ability to take part in daily and social activities, and their emotional wellbeing. This declining physical function was reflected in an increased level of care and emotional burden reported by caregivers. As individuals with nmDMD lose ambulation, their decline in physical function can lead to impairments in other areas of life, which can impact their health-related quality of life (HRQoL) and that of their caregivers. Treatments which delay progression have the potential to prevent loss of function and decline in HRQoL of individuals and their caregivers.

PRO119 Symptoms and Impacts of Nonsense Mutation Duchenne Muscular Dystrophy: A Qualitative Study and the Development of a Patient-Centred Conceptual MODEL

Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disorder which primarily affects boys. It causes progressive muscle degeneration and weakness which leads to loss of motor function and premature death. It is typically diagnosed before the age of five as a result of a delay in reaching motor milestones. Around 10-15% of cases are caused by a nonsense mutation (nmDMD). This study aimed to understand the symptoms of nmDMD and its impact on health-related quality of life (HRQoL). Qualitative interviews were conducted with caregivers of individuals with nmDMD treated with ataluren in the UK. An interview guide, developed with input from clinical experts and patient advocacy groups, explored key concepts (symptoms and impacts) associated with nmDMD prior to complete loss of ambulation. Interviews were conducted by telephone, recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. A conceptual model was developed to illustrate the relationship between symptoms and impacts. Ten interviews were conducted with the parents of individuals aged 4-19 years. Key symptoms identified were muscle weakness and muscle breakdown, which were associated with limitations in physical functioning (lower limb function, core strength, upper limb function) and pain. Other core concepts included fatigue and cognitive-behavioural symptoms (e.g. learning difficulties and behavioural issues). These symptoms impacted people’s daily activities (e.g. limitations with self-care), social activities (e.g. difficulty keeping up with others) and emotional wellbeing (e.g. frustration). These concepts and relationships were illustrated in a conceptual model. Positive and negative moderating factors (e.g. support and treatment) were discussed. Caregivers reported a range of interrelated symptoms and functional issues which impacted the broader HRQoL of individuals with nmDMD. Treatments which address the high unmet need in this population by improving symptoms, functioning, or delaying progression have the potential to improve HRQoL in these individuals.

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM to expand knowledge about health, development, and parental concerns. Participants included attendees of the inaugural MFDM family conference in June 2019 and members of the MFDM online group. To explore MFDM variable expressivity, we offered targeted Sanger sequencing for untested parents. Forty-seven parents participated in the survey. 59% of individuals with MFDM were male, with mean age 6.4 years (range 8 months to 49 years). Similar to the literature (n = 123), common features include microcephaly, cleft palate, choanal stenosis, tracheoesophageal fistula, heart problems, and seizures. New information includes airway intervention details, age-based developmental outcomes, rate of vision refractive errors, and lower incidences of prematurity and IUGR. Family concerns focused on development, communication, and increased support. Targeted Sanger sequencing for families of seven individuals demonstrated de novo variants, for a total of 91.9% de novo EFTUD2 variants (n = 34/37). This study reports the largest single cohort of individuals with MFDM, expands phenotypic spectrum and inheritance patterns, improves understanding of developmental outcomes and care needs, and identifies development as the biggest concern for parents.

Down syndrome caregivers' support needs: a mixed-method participatory approach.

The purpose of the study was to explore the support needs of caregivers of children with Down syndrome from their perspective using a mixed-method participatory research approach. Concept mapping methodology was used to obtain caregiver perspectives. Twenty-one caregivers answered the question 'Are parents of individuals with Down syndrome supported, why or why not?' Caregivers were involved in the analysis of the data through concept mapping procedures. Sorted data were analysed with multidimensional scaling and cluster analysis. Participants generated eight thematic clusters representing the support needs of caregivers of children with Down syndrome. The themes included online and social support, support system gaps, areas where support is lacking, Down syndrome community support, financial support, advocacy needs, educational support and concerns for community programming. Themes align with previous research on support needs of parents of children with developmental disabilities. The study highlights the need for more local organisations to offer support that is affordable and accessible for families. Results will support future programme planning for services for individuals caring for those with Down syndrome.