Parental experience after diagnosis of a congenital upper limb difference: a national survey.

Congenital hand and upper limb differences may be detected during antenatal ultrasonography or visually at birth. We investigated the experience of parents when they first learned that their child had an upper limb difference. This national retrospective cross-sectional quantitative and qualitative survey within the UK and Ireland received 261 responses from parents of children. Differences were first suspected antenatally among 41% of respondents and in 57% postnatally, with 2% unsure. Of the children, 54% were seen in a clinic by a specialist congenital hand surgeon within 3 months and 88% within 12 months, with 73% of respondents feeling unsupported after a diagnosis that was unexpected. Qualitative analysis outlined a broad spectrum of parental concerns about the quality of information received, especially regarding the child's future biopsychosocial needs. This study showed the need for more support for parents from frontline healthcare professionals and the need for a streamlined referral pathway.Level of evidence: IV.

The effect of congenital hand differences on handedness in children.

We investigated whether handedness is influenced by the presence of a congenital hand difference (CHD). Among 31 children with right-sided CHDs, 13 were left-handed and 18 were right-handed, regardless of severity. This was significantly different from the normal population, suggesting that CHD does influence handedness.

The importance of embryology for parents of children with congenital hand differences.

This study aimed to determine whether embryology knowledge or explaining the possible developmental pathway error was important for parents of affected children, and to secondarily determine if there was a relationship between desired knowledge of embryology and disease severity, maternal age group or maternal level of education. Using a self-administered questionnaire, a significant proportion of responding parents considered knowledge of embryology important (32 out of 43). We found a significant association between the importance of embryology knowledge for parents and the disease severity. However, the importance and level of knowledge desired was not related to maternal age or level of education. This study demonstrated the importance of explaining the associated developmental errors in the congenital hand consultation, particularly in severe anomalies. Surgeons should familiarize themselves with embryology to provide an explanation as to why congenital hand differences happen, which may provide better psychological support for parents of these children.

Developing a Parental-Friendly Scoring System for Children with Congenital Hand Differences.

Background: Congenital hand differences (CHD) exhibit enormous diversity and heterogeneity. Surgeons and parents often have different concepts of severity, making things difficult during parental consultation. This study aims to align surgeon/parental views on the severity of the child's CHD using a novel severity classification. Methods: Parents of affected children were asked to score the severity of their child's abnormality pre- and post-consultation using a subjective scale (1-4) without any explanation. Furthermore, parents were asked to rate their concerns about the future function and appearance of their child's hand condition using a similar scale of 1-4. They were then asked to rate the severity of the CHD post-consultation and three months post-operatively following explanation of the 4-point scale, as follows: 1 = treatment possible to normal; 2 = treatment possible to near normal; 3 = treatment possible but always some hand differences; 4 = treatment not possible. The surgeon also independently scored all children using his perception of the scale. Results: Forty-three children with a range of CHD were recruited into the sample. Linear weighted kappa analyses comparing inter-rater agreement showed no agreement between surgeon and parents during the initial scoring without any explanations. However, with explanations added, agreement rose significantly (kappa = 0.437 post-consultation and kappa = 0.706 three months post-op). No correlation was found between severity with both appearance and function (r = 0.277 and r = -0.184, respectively). Conclusions: This study demonstrated that the use of a simple scoring system was able to improve parental understanding of the severity and prognosis of CHD. The system demonstrated a good correlation between surgeon and parents. Such a scoring system can be easily utilised in the outpatient department to manage expectations and reduce anxiety.