Growth charts for weight and height of Indian children with Down syndrome.

Age and gender specific growth charts for Indian children with Down syndrome (DS) based on longitudinal data have not been published. To establish percentile growth charts for DS children inhabiting northwestern parts of India, body weight and length/height of 1125 (Male: 752, Female: 373) children with DS aged <1 month to 10 years, enrolled from the "Genetics Clinic" were measured at half yearly age intervals in the "Growth Clinic" of the Institute from August 1994 to November 2018. A total of 2089 observations were made on these children using standardized anthropometric techniques and instruments following a prospective mixed-longitudinal growth research design. Using the LMS method, age and sex-specific percentile growth charts (<1 month to 10 years) for weight, and length/ height were generated. Unpaired t-test was used to compare mean growth attainments of study children with those of DS patients representing other population groups as well as their normal Multicentre Growth Reference Study (MGRS and Indian Academy of Pediatrics (IAP) counterparts. The 50th percentile growth curves for both weight and length/height of Indian children with DS demonstrated a regular increase. As compared to their normal MGRS and Indian (IAP) counterparts, the children with DS had lower weight and height attainments. The boys and girls with Down syndrome showed short stature (height < 3rd centile) from the age of 1 year till 10 years and also became underweight beyond 5 years. As compared to their normal counterparts, children with Down syndrome exhibited compromised auxological attainments. The use of growth charts presented herein may be used to compare and monitor growth and nutritional status of Indian children with Down syndrome.

Hematological Indicators of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Malaria-Infected Individuals

@#Introduction: Malaria, a life-threatening infectious disease caused by Plasmodium parasites, continues to be a major global health concern, particularly in regions with high transmission rates. This retrospective cohort study aimed to investigate the hematological indicators of G6PD deficiency in individuals infected with malaria. The study utilized medical records and laboratory test results to analyze the hematological parameters and markers in individuals with confirmed malaria and G6PD deficiency. Methods: Data were collected from the laboratory unit of Mosul Teaching Hospitals in Ninevah Province, Iraq, from March 2021 to November 2022. The study population consisted of individuals diagnosed with malaria and with available G6PD deficiency test results. G6PD deficiency was determined by measuring the G6PD enzyme activity in the patient’s blood. Hematological parameters, including complete blood counts, platelet counts, and red blood cell indices, were recorded using a laboratory information system. Results: The study population exhibited a relatively low prevalence of G6PD deficiency, with no significant differences observed in age or gender distribution between individuals with and without G6PD deficiency. The distribution of malaria types did not differ significantly between the two groups. However, patients with G6PD deficiency showed a significantly higher monocyte count, indicating a potential association between G6PD deficiency and altered monocyte response during malaria infection. The clinical significance of this finding requires further investigation. Conclusion: This study sheds light on the hematological indicators of G6PD deficiency in individuals infected with malaria. The findings suggest a potential relationship between G6PD deficiency and altered monocyte response during malaria infection.

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing.

The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first step, narrative data from 68 women with BRCA1/BRCA2 pathogenic variants and clinician feedback informed a culturally sensitive adaptation of the content consistent with current risk management guidelines. In the second step, the Information Technology team developed the functions and the interface of the web application that will host the intervention. In the third step, a new sample of 18 women from families harboring BRCA1/BRCA2 pathogenic variants tested the acceptability and usability of the intervention using "think-aloud" interviews and a questionnaire. Participants expressed high levels of satisfaction with the intervention. They provided positive feedback for the information regarding active coping, strategies to enhance family communication, interactive elements, and illustrative stories. They reported that the information was useful and the web application was easy to navigate. Findings suggest that the Family Gene Toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be tested in a subsequent randomized trial.

Incidence of and indications for sperm donor restriction - analysis of patients continuing treatment: a retrospective single-centre study.

RESEARCH QUESTION: What are the incidence of and indications for sperm donor restriction due to suspected/confirmed disease risk, and the future treatment choices of patients using these sperm donors? DESIGN: This single-centre retrospective study involved donors who had restrictions on the use of their imported spermatozoa from January 2010 to December 2019, and current or previous recipients. Indications for sperm restriction and the characteristics of patients undergoing medically assisted reproduction (MAR) treatment with these specimens at the time of restriction were collected. Differential characteristics of women who decided on whether or not to contintue the procedure were assessed. Characteristics potentially leading to treatment continuation were identified. RESULTS: Of 1124 sperm donors identified, 200 (17.8%) were restricted, most commonly for multifactorial (27.5%) and autosomal recessive (17.5%) disorders. The spermatozoa had been used for 798 recipients, of whom 172, receiving spermatozoa from 100 donors, were informed about the restriction and constituted the 'decision cohort'. The specimens from the restricted donors were accepted by 71 (approximately 40%) patients, with 45 (approximately 63%) eventually using the restricted donor for their future MAR treatment. The odds of accepting the restricted spermatozoa decreased with increasing age (OR 0.857, 95% CI 0.800-0.918, P < 0.001) and the time between MAR treatment and the restriction date (OR 0.806, 95% CI 0.713-0.911, P < 0.001). CONCLUSION: Donor restriction due to suspected/confirmed disease risk is relatively frequent. This affected a relevant number of women (around 800), of whom 172 (approximately 20%) had to decide whether or not to use these donors further. Although donor screening is being performed thoroughly, there remain health risks for donor children. Realistic counselling of all stakeholders involved is necessary.

Underlying causes and outcomes of recurrent pneumonia in hospitalized children.

OBJECTIVES: To describe the clinical characteristics and underlying causes of recurrent pneumonia (RP) among hospitalized children, and to identify risk factors associated with adverse outcomes. METHODS: We reviewed the medical records of hospitalized children diagnosed with RP at the Children's Hospital of Fudan University from January 2016 to January 2021 and then described clinical characteristics and underlying causes. The associations between factors and adverse outcomes were assessed using logistic regression. RESULTS: Of 551 children with RP, 483 (87.7%) manifested underlying causes, with recurrent aspiration (127, 23.0%), primary immunodeficiency (PID) (91, 16.5%), and congenital heart diseases (63, 11.4%) being the most common. Genetic defects were identified in about a quarter (158, 28.7%) of the patients. PID odds ratio (OR, 7.9; 95% confidence interval [CI], 2.8-22.8), primary ciliary dyskinesia (OR, 12.9; 95% CI, 3.0-54.8), bronchiolitis obliterans (OR, 7.0; 95% CI, 1.7-28.5), and a diagnosis of RP at an age of >3 years (OR, 3.4; 95% CI, 1.3-9.0) were risk factors for severe outcomes. Aspiration (OR, 2.9; 95% CI, 1.3-6.3) and an abnormal family history (OR, 3.3; 95% CI, 1.3-8.2) were risk factors for rehospitalization. CONCLUSIONS: The majority (87.7%) of hospitalized children with RP exhibited underlying causes, and genetic defects were common.

Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study.

BACKGROUND: For genetic conditions associated with neurodevelopmental disorder (GCAND), developmental domains such as motor ability, thinking and learning, social abilities, and communication are potential intervention targets. Performance on measures of developmental concepts can be expressed using several types of scores. Norm-referenced scores are intended for the diagnostic context, allowing for the identification of impairment relative to age-based expectations, and can exhibit dramatic floor effects when used in individuals with more significant limitations. Person ability scores, which are derived via Rasch analysis or item response theory, are available on many standardized tests and are intended to measure within-person change. However, they have not been used or evaluated as primary endpoints in GCAND clinical trials. In this study, we simulated a series of parallel-arm clinical trials under several chronological age and impairment conditions, to compare empirically the power and type I error rate of operationalizing test performance using ability scores rather than norm-referenced scores. RESULTS: Using the Vineland Adaptive Behavior Scales as the example, we demonstrated an advantage in statistical power of ability scores over norm-referenced scores at extreme levels of impairment. This advantage was at least partially driven by floor effects in norm-referenced scores. For simulated conditions where impairment was less severe, ability scores outperformed norm-referenced scores, but they were more similar. The type I error rate closely approximated the nominal type I error rate of 5% for both scores. CONCLUSION: The results of this simulation demonstrate a substantial power and interpretative advantage of ability scores over norm-referenced scores for studies of GCAND that will enroll participants with high levels of impairment. These results are expected to generalize to studies of developmental concepts, regardless of the etiology or specific test. However, the relative advantage of ability scores is expected to be even greater for tests with a higher floor than the Vineland.

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband-Provider and Proband-Family Communication in Hereditary Breast and Ovarian Cancer.

Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands' perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the "communication chain", confirming the difficulties of proband-mediated communication. Provider-proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands' decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands' involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication.

The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.

Early identification of genetic kidney disease allows personalised management, clarification of risk for relatives, and guidance for family planning. Genetic disease is underdiagnosed, and recognition of genetic disease is particularly challenging in patients with kidney failure without distinguishing diagnostic features. To address this challenge, the primary aim of this study is to determine the proportion of genetic diagnoses amongst patients with kidney failure of unknown aetiology, using whole genome sequencing (WGS). A cohort of up to 100 Australian patients with kidney failure of unknown aetiology, with onset <50 years old and approved by a panel of study investigators will be recruited via 18 centres nationally. Clinically accredited WGS will be undertaken with analysis targeted to a priority list of ∼388 genes associated with genetic kidney disease. The primary outcome will be the proportion of patients who receive a molecular diagnosis (diagnostic rate) via WGS compared with usual -care (no further diagnostic investigation). Participant surveys will be undertaken at consent, after test result return and 1 year subsequently. Where there is no or an uncertain diagnosis, future research genomics will be considered to identify candidate genes and new pathogenic variants in known genes. All results will be relayed to participants via the recruiting clinician and/or kidney genetics clinic. The study is ethically approved (HREC/16/MH/251) with local site governance approvals in place. The future results of this study will be disseminated and inform practical understanding of the potential monogenic contribution to kidney failure of unknown aetiology. These findings are anticipated to impact clinical practice and healthcare policy. Study Registration: [https://dora.health.qld.gov.au], identifier [HREC/16/MH/251].

Síndrome de úlceras en piernas de carácter familiar y comienzo precoz / Familial Leg Ulcer Syndrome of Early Onset

Introducción: Las úlceras en las piernas son llagas sin sanar o lesiones abiertas de etiología multifactorial. Constituyen una patología importante en la práctica diaria de los profesionales de la salud en todos los niveles de asistencia. Objetivo: Presentar un caso infrecuente con una afección genética hereditaria familiar que provocó lesiones ulcerosas en las extremidades inferiores. Presentación del caso: Paciente masculino de 30 años con lesiones ulcerosas en ambos miembros inferiores, de 18 años de años de evolución, muy dolorosas con signos de infección local severa. Presentó diagnóstico de úlceras inespecíficas en ambos miembros inferiores. Fue ingresado con toma de su estado general, gran limitación de la deambulación, dolor intenso en ambas piernas, lesiones abundantes ulcerosas sucias diseminadas en ambas piernas, de fondo amarillento, con secreción amarilla clara, muy fétida. Se realizó estudio clínico, humoral, imagenológico, microbiológico y anátomo-histopatológico. Conclusiones: Se diagnostica síndrome de úlceras en piernas de carácter familiar y comienzo precoz, de herencia recesiva ligada al cromosoma X. Se requieren estudios a mayor escala para evaluar las contribuciones de los factores genéticos en la génesis de esta enfermedad, los cuales podrían ser la clave para comprender mejor su desarrollo(AU)

Introduction: Leg ulcers are unhealed sores or open lesions of multifactorial etiology. They constitute an important pathology in the daily practice of health professionals at all levels of care. Objective: To report an infrequent case with a familial hereditary genetic condition that caused ulcerative lesions in the lower limbs. Case report: We report the case of a 30-year-old male patient with ulcerative lesions on both lower limbs, 18 years of evolution, very painful with signs of severe local infection. He had diagnosis of nonspecific ulcers in both lower limbs. He was admitted with poor general condition, great limitation of ambulation, intense pain in both legs, abundant dirty yellowish ulcerative lesions scattered on both legs, and light yellow, very foul-smelling discharge. A clinical, humoral, imaging, microbiological and anatomical-histopathological study was performed. Conclusions: The diagnosis was familial leg ulcer syndrome of early onset, recessive inheritance linked to the X chromosome, is diagnosed. Larger scale studies are required to assess the contributions of genetic factors in the genesis of this disease, which could be the key to better understand its development(AU)

From Learning to Memory: A Comparison Between Verbal and Non-verbal Skills in 22q11.2 Deletion Syndrome.

Background: Previous studies on possible memory deficits in 22q11DS often focused on quantifying the information memorized, whereas learning processes have been mostly overlooked. Furthermore, methodological differences in task design have made verbal and non-verbal comparison challenging and mixed results have been observed depending on chosen stimuli. Method: 135 participants (78 with 22q11DS) completed a multi-trial memory task modeled after the Rey Auditory Verbal Learning Task, comparing verbal and non-verbal learning as well as retention over time. Performance in the 22q11DS group were compared to controls and learning curves were analyzed. Results: In 22q11DS, slower acquisition of non-verbal material and higher rates of errors in both verbal and non-verbal tasks was observed. After 30 min, free recall performance, when corrected for initial learning rate, was similar between 22q11DS and controls. Conversely, recognition performance was overall weaker for 22q11DS in both modalities (verbal and non-verbal). Conclusion: This study examined how information is acquired, retained in memory over time and how different recall modalities (free recall vs. recognition) could yield different performances. Clinical implications of the findings are discussed.

Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia.

Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average lengthening was 27 cm for achondroplasia (12-40 cm) and 17 cm for hypochondroplasia (range 10-25 cm). There were 48 females and 27 males. Lengthening was done either by 2-segment (14 patients; both tibias and/or both femurs) or by 4-segment lengthenings (64 patients; both femurs and tibias at the same time). Most patients also had bilateral humeral lengthening. Patients had 2 or 3 lower limb lengthenings and one humeral lengthening. Lengthenings were either juvenile-onset (31), adolescent-onset (38) or adult-onset (6). The average age at final follow-up was 26 years old (range 17-43 years). There were few permanent sequelae of complications. The most serious was one paraparesis. All patients returned to activities of normal living and only one was made worse by the surgery (paraparesis). This is the first study to show that ELL can lead to an increase of height into the normal height range. Previous studies showed mean increases of height of up to 20 cm, while this study consistently showed an average increase of 30 cm (range 15-40 cm) for juvenile-onset and mean increase of 26 cm (range 15-30 cm) for adolescent-onset. This results in low normal height at skeletal maturity for males and females. The adult-onset had a mean increase of 16.8 (range 12-22 cm). This long-term follow-up study shows that ELL can be done safely even with large lengthenings and that 4-segment lengthening may offer advantages over 2-segment lengthening. While all but the more recent cases were performed using external fixation, implantable limb lengthening promises to be an excellent alternative and perhaps an improvement.

Supporting families of children with an undiagnosed genetic condition: Using co-design to ensure the right person is in the right post doing the right job.

BACKGROUND: Families and professionals caring for a child without a definitive diagnosis face unique challenges, particularly in relation to managing uncertainty; access to healthcare; obtaining relevant information and support; and trying to navigate a healthcare system that is often fragmented. We used co-design to inform the establishment of the first UK specialist nursing post dedicated to working with children with undiagnosed genetic conditions and their families. OBJECTIVES: (1) To understand what families and hospital staff want from the service; (2) To understand how the post should be operationalized in practice; (3) To develop the job description and person specification for the postholder. METHODS: A range of approaches were used to collect data: interviews (nine parents and 10 hospital staff); a focus group (three parents); a creative workshop (six patients and siblings); and an online forum (81 parents). Data were analyzed using framework and thematic analysis. The strands of data were brought together and reviewed as a whole to formulate the postholder's job description and person specification. RESULTS: Stakeholders identified nine key elements to the role which were incorporated into the job description: practical support; point of contact; community liaison; signposting to other services; care coordination; supporting families; advocacy; raising awareness; and emotional support. CONCLUSIONS: Highlighted in this paper are the practical aspects of engaging and involving all relevant stakeholders in the process of co-designing a new post and subsequent staff recruitment. The flexibility employed in the setting and methods of data collection were instrumental in ensuring that the views of a diverse range of participants were ascertained. A major consideration is the resources required to undertake co-design, in terms of time and finances. We believe that the resources required for the co-design are offset by the advantages of having the right person in the right post, doing the right job.

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.

Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants' views towards carrier screening and their lived experience of having a child with a genetic condition.

Genetics and pediatric hospital admissions, 1985 to 2017.

PURPOSE: To determine the prevalence and sociodemographic and hospitalization history of genetic conditions in a sample of inpatients in a pediatric hospital in 2017, and to compare results with unpublished studies from 1985, 1995, and 2007. METHODS: Two weeks of admissions were classified according to a pre-existing categorization, based on genetic etiology, encompassing chromosomal and monogenic conditions, multifactorial (MF) conditions, and no known genetic cause. RESULTS: In 2017, 299 (16%) patients had chromosomal or monogenic conditions, 6-7% more than 2007 and 1995, but similar to 1985. Autosomal dominant (AD) conditions increased from <2% previously to 6% in 2017 (p < 0.001). MF conditions comprised the majority throughout, increasing from 45% to 54%. Age at admission was highest in autosomal recessive (AR) and X-linked categories in 1995, 2007, and 2017, reflected in their high number of previous admissions, while the AD, MF, and nongenetic categories were the youngest with similar lengths of stay and previous admissions. CONCLUSION: Conditions with a genetic contribution account for over half of pediatric inpatients. Since 1985, there have been many changes in age at admission and length of stay, but it is the increasing prevalence of AR, AD, and MF conditions that is important when considering future service provision.

Interview with Susan Kelly. Co-coordinator of the 1st workshop about the Sociology of Diagnosis in Brazil / Entrevista com Susan Kelly. Co-coordenadora do I Workshop sobre a Sociologia do Diagnóstico no Brasil

Abstract In this interview, Susan Kelly, professor and researcher at the Center for Life Sciences - Egenis, and the University of Exeter, England, discusses her academic career, involvement with the Sociology of Diagnosis and the work involved with the first activity on the Sociology of Diagnosis carried out in Brazil.

Resumo Nessa entrevista, Susan Kelly, professora e pesquisador do Centro sobre as Ciências da Vida - Egenis, e da Universidade de Exeter, em Inglaterra, aborda a sua trajetória acadêmica, o envolvidomento com a Sociologia do Diagnóstico e os trabalhos envolvidos com a primeira atividade sobre a Sociologia do Diagnóstico realizada no Brasil.

A pessoa com o diagnóstico de uma condição genética como informante-chave do campo das doenças raras - uma perspectiva pela sociologia do diagnóstico / The individual with the diagnosis of a genetic condition as a key informant in the field of rare diseases - a perspective from the sociology of diagnosis

Resumo Em um panorama diferente da maioria dos trabalhos do campo das chamadas doenças raras, esse artigo transpõe os limites das associações para chegar até as pessoas que vivem com o diagnóstico de uma condição genética e entendida como doença rara, a Neurofibromatose (NF). Nesse trajeto, utiliza-se da ainda nascente Sociologia do Diagnóstico para identificar tanto o impacto quanto as consequências do diagnóstico na vida das pessoas. Como resultado entende-se que devemos superar o olhar caritativo sobre as pessoas que vivenciam o diagnóstico de uma condição genética, o doente, para, como um informante-chave, captar as contribuições para melhorar os serviços de saúde e as nossas relações sociais.

Abstract Adopting a different viewpoint from most of the work in the field of so-called rare diseases, this paper crosses the boundaries of the associations to reach people living with the diagnosis of a genetic condition, which is understood as being a rare disease, namely neurofibromatosis (NF). In this respect, the incipient Sociology of Diagnosis is utilized to identify both the impact and the consequences of the diagnosis in people's lives. As a result, the consensus is that it is necessary to transcend the charitable outlook on people who experience the diagnosis of a genetic condition, by perceiving the patient as a key informant in order to collect input to improve health services and our social relations.

Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore.

This study explored patients' experiences and perceptions of living with thalassemia (an inherited hematologic disorder), perceptions of social stigma, and impact on disclosure decision-making. Semistructured, in-person interviews were conducted in Singapore with 30 individuals: 16 thalassemia major patients and 14 parents of children with thalassemia. Findings were indicative of felt or enacted stigma that may have influenced disclosure decisions. Although affected individuals commonly disclosed their thalassemia diagnosis to family members, they either downplayed the condition with or avoided disclosure to unrelated individuals. Disclosure outside the family occurred only in response to triggers, such as questions about absences due to medical care. Health professionals should provide anticipatory guidance about disclosure strategies when managing individuals with thalassemia.

Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.

As expanded genome-scale carrier screening becomes increasingly prevalent, patients will face decisions about whether to receive results about a vast number of genetic conditions. Understanding patient preferences is important to meaningfully demonstrate the ethical goal of respect and support patient autonomy. We explore one possible way to elicit preferences by sorting conditions into categories, which may support patient decision making, but the extent to which categories are helpful is unknown. In the context of a randomized trial of genome sequencing for preconception carrier screening compared to usual care (single disease carrier testing), we interviewed 41 participants who had genome sequencing about their experience using a taxonomy of conditions to select categories of results to receive. We then conducted interviews with an additional 10 participants who were not randomized to genome sequencing, asking them about the taxonomy, their reasons for selecting categories, and alternative ways of presenting information about potential results to receive. Participants in both groups found the categories helpful and valued having a meaningful opportunity to choose which results to receive, regardless of whether they opted to receive all or only certain categories of results. Additionally, participants who received usual care highlighted preparedness as a primary motivation for receiving results, and they indicated that being presented with possible reasons for receiving or declining results for each category could be helpful. Our findings can be used to develop approaches, including the use of categories, to support patient choices in expanded carrier screening. Further research should evaluate and optimize these approaches.

Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.

Newborn screening enabling early diagnosis of medium chain acyl-CoA dehydrogenase deficiency (MCADD) has dramatically improved health outcomes in children with MCADD. Achieving those outcomes depends on effective management by parents. Understanding parental management strategies and associated anxieties and concerns is needed to inform provision of appropriate care and support. Semistructured interviews were conducted with a purposive sample of parents of children aged 2 to 12 years. Thematic analysis identified two main themes. Managing dietary intake examined how parents managed day-to-day dietary intake to ensure adequate intake and protection of safe fasting intervals. Managing and preventing illness events explored parental experiences of managing illness events and their approach to preventing these events. Management strategies were characterized by caution and vigilance and influenced by a lack of confidence in others to manage the condition. The study identifies the need for increased awareness of the condition, particularly in relation to emergency treatment.

The impact of a sibling's life-limiting genetic condition on adult brothers and sisters.

It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings. Although young adults may have conflicting feelings as a bereaved sibling, there is evidence that the experience impacts on their world views and their attitudes about prospective and expectant parenthood. The study highlights the importance of providing siblings with short-term and long-term support from the time of their brother's or their sister's diagnosis onward and provides new understanding about benefit of professional and peer support in helping young adults develop resilience and coping strategies.