Exploring the family experience of children aged 2-4 years receiving daily vosoritide injections: A qualitative study.

PURPOSE: Vosoritide is administered as a daily subcutaneous injection in children with achondroplasia. In clinical trials, families of children aged 2-4 years reported difficulty with drug administration due to child fear, pain, and distress. Study aims were to gain a better understanding of the current vosoritide administration experience in this cohort and to investigate whether topical anaesthesia and ice application prior to injections improved the child and family experience. DESIGN AND METHODS: A qualitative descriptive study design ensured in-depth understanding of family experience. Parents were interviewed to explore experience of vosoritide administration for their child at two time points, before (Phase 1) and after (Phase 2) the introduction of topical anaesthesia and ice application prior to injections. Interviews were analysed using thematic analysis. RESULTS: Seven families participated. Children's ages ranged from 2 years 2 months to 3 years 11 months. Five themes emerged from data analysis: (1) The reality of the burden of care; (2) Child experience as the greatest obstacle; (3) Parents juggle multiple emotional considerations; (4) Many factors may impact experience; and (5) Short-term and long-term impacts. CONCLUSIONS: Administration of vosoritide in this cohort presents multiple challenges for families. Factors which influenced experience differed between families. Responses to topical anaesthesia and ice application also varied between children, improving administration experience for some children and worsening experience for others. PRACTICE IMPLICATIONS: This study highlights the need for individualised care for young children receiving daily injections. Support should be provided to families to identify factors that improve experience.

Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate.

OBJECTIVE: Subclinical phenotypes of nonsyndromic cleft lip with or without cleft palate (CL ± P) may be identified from clinically "unaffected" relatives and could be associated with specific cleft-related gene mutations. It has been hypothesized that velopharyngeal insufficiency (VPI) may be a subclinical phenotype of interest in this population, but this has not been explored quantitatively with appropriate control cohorts. The aim of this case-control study was to compare VPI in at-risk clinically unaffected relatives of individuals with nonsyndromic CL ± P with a low-risk matched normative Australian cohort. PARTICIPANTS: Clinically unaffected (ie, with no overt cleft) first-degree relatives of a proband with nonsyndromic CL ± P (n = 189) and noncleft controls (n = 207). MAIN OUTCOME MEASURE(S): Perceptual measures of VPI encompassing resonance, nasal emission, and articulation were evaluated using the Great Ormond Street Speech Assessment. Quantitative measures of VPI were obtained from the Nasometer II using standardized adult and pediatric speech stimuli. RESULTS: Both perceptual and instrumental measures showed no significant difference (P > .01) between the VPI in unaffected relatives and the noncleft comparison group. Mean nasalance scores for both groups were calculated and reported according to speech stimuli, age, and sex. CONCLUSIONS: Results suggest that VPI, measured through speech, is not a significant subclinical phenotype of nonsyndromic CL ± P. Therefore, further familial genetic investigations exploring VPI may not yield meaningful results. Exploration across multiple subclinical phenotypes in larger cohorts may enable researchers to better understand the multifaceted nature of this complex and heterogeneous anomaly.

Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate.

BACKGROUND: The aetiology of isolated clefts of the lip and/or palate remains obscure. Unaffected family members are treated as if their genetic risks are equivalent and low. Given the number of genes associated with both clefting and dental anomalies, the hypothesis that such anomalies contribute to the cleft phenotype should be explored. AIM: To describe the dental characteristics of parents of children with non-syndromic cleft lip ± palate. DESIGN: Unaffected parents of Australian children with a cleft of the lip ± palate underwent dental examination including radiographs, photographs, and impressions. Dental anomalies were identified. RESULTS: Data were available on 101 parents (49 males, 52 females). Fifty-one participants had at least one dental anomaly. Twelve (11.8%) individuals had congenital absence of teeth, with seven missing multiple teeth. The tooth most commonly missing was the upper right lateral incisor. Five subjects (4.9%) had microdontia (upper lateral incisor most commonly affected). Four subjects (4.0%) had supernumerary teeth. Enamel defects were present in 27 (26.7%) cases with the incisors (46.8%) followed by premolars (24.2%) most affected. CONCLUSIONS: This study supports previous work suggesting that 'unaffected' parents of children with clefts of the lip ± palate may present with dental anomalies.

Parental experiences and genetic counsellor roles in Pierre Robin sequence.

Pierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can impair the newborn's feeding and breathing. While there has been much research around the cause of PRS and most appropriate methods of care, understanding the psychosocial aspects of a PRS diagnosis from the parents' perspective is lacking. The aim of this study is to understand parental experiences of having a child diagnosed with PRS, as well as the role of genetic counselling in PRS. Fourteen semi-structured interviews were conducted with parents of children diagnosed with isolated PRS between 2 and 5 years prior. From these 14 interviews, eleven transcripts were analysed to find common themes and experiences. The diagnosis was confusing and overwhelming for participants during emotionally sensitive periods and little was understood about the cause of their child's PRS. Those participants who did recall experiences with genetic services reported that they were minimal and uninformative. According to participant recollection, genetic counselling was rarely offered, despite there being a potential for this service in PRS. Genetic counselling would be a valuable source of information and support for parents both at the time of antenatal diagnosis, and potentially 6 to 12 months later in the outpatient environment when these children are all routinely reviewed by their clinical care team.

'Are you asking me if we had sex to conceive?' To whom do parents of twins disclose mode of conception and what do they feel about being asked?

There are no data on whether parents of twins will disclose mode of conception to researchers or to their children, who will be informants in adulthood. We sent 1600 questionnaires about this via the Victorian branch of the Australian Multiple Birth Association, to be returned anonymously. Parents were asked how their twins were conceived and whether those who used assisted conception would disclose this to researchers studying assisted conception, twin pregnancy or twin children, or to their children. Comments were invited. Altogether 975 (61%) questionnaires were returned and 389 (40%) indicated use of some form of assisted conception: 75 (19%) ovarian stimulation alone, 165 (42%) In Vitro Fertilisation, 132 (34%) Intracytoplasmic Sperm Injection, and 17 (4%) Gamete Intrafallopian Transfer, with 20 reporting use of donor eggs and thirteen donor sperm. Of those using assisted conception, the proportion reporting that they would not, or may not, tell researchers was 5% for assisted conception studies, 6% for twin pregnancy studies, and 7% for studies of twin children, while 7% reported that they would not, or may not, tell their children. From the comments (from 374/975; 38%) it was clear that questions about mode of conception can be offensive to some parents of twins, unless there is a need to know. Further, the question 'are your twins natural?' should be avoided. We believe the question 'Did you need medical help to conceive your twins', followed up with specific questions, is more acceptable.

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study.

Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of the lip with or without cleft palate (CL/P). 'OzCleft', a family-based genotype/phenotype study, is investigating this further. Participation for families involves various clinical investigations of the child with the cleft, and their unaffected sibling(s) and parents. Informal feedback from individuals involved in OzCleft suggested that participation in this research programme had benefits for families. Taking a qualitative approach, this study sought to investigate this hypothesis further. Semi-structured in-depth interviews were conducted with nine parents who had participated in OzCleft. All parents described participation as a positive experience for themselves and their families. Perceived benefits included a greater appreciation of the cleft treatment experience by unaffected family members. Being involved in a genetic study raised issues for parents regarding the cause of clefting in their child. While some parents found the possibility of a genetic component reassuring, it also raised questions about the potential implications for future generations. Parents were largely unsure about how to communicate this information to their children and the predictive value of this information. This study suggests a lack of genetic understanding and/or perceived value of genetic information by parents of children with CL/P that, in turn, highlights the need for increased support from genetic health professionals in this area.