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The purpose of this study was to better understand how individuals with craniofacial conditions experience living with visible differences and make sense of appearance-altering surgery. We conducted semi-structured qualitative interviews with 11 adults with Goldenhar or Crouzon syndrome. Interviews were analysed using a hermeneutic-phenomenological approach to thematic analysis. Our analysis revealed the following overarching theme, To see myself as other people see me, which encompassed three main themes: a) Striving to fit in, b) Altering the way I look and c) Support from family and friends. The participants’ sense of their own appearance seemed to be connected to how they perceived others to evaluate their appearance. All had experienced negative reactions from others. They experienced themselves as different and had a desire to belong. All participants had undergone appearance-altering surgery, hoping that by changing appearance, they would reduce negative reactions and feel more connected to and accepted by other people. The process of undergoing appearance-changing surgery was experienced as challenging, and participants wished for a dialogue with surgeons which included psychological and emotional aspects of changing appearance. A better understanding of how to strengthen positive identity processes and feelings of belongingness should be a key focus of future research.

Many adolescents live with a visible difference that affects their lives in profound ways, but studies investigating parents’ perceptions of raising appearance issues during conversations with their adolescent are lacking. As part of a larger study exploring the effectiveness of a web-based intervention (YP Face IT), semi-structured interviews were conducted with 18 parents of adolescents with a visible difference. Thematic analysis revealed four overarching themes: (1) Conversational settings; (2) Understanding adolescents’ feelings and thoughts; (3) Providing parental guidance and encouragement; and (4) When the dialogue becomes difficult. Results showed that parents resorted to specific settings when instigating conversations about appearance, such as when their adolescents expressed a need for emotional care, were perceived to be upset, or whilst managing their condition. The choice of setting was also important as some parents generally felt uncomfortable raising appearance issues with their adolescent, for fear of fueling appearance concerns. Results further suggest that open communication can enable parents to stay informed about their adolescent’s psychosocial adjustment to a visible difference. These results stress the need to make available support to facilitate open communication about appearance-related topics between parents and adolescents.

Objective To document the impact of early follow-up by specialized cleft nurses (SCNs) to families of infants with cleft lip and/or cleft palate (CL/P). Design Prospective inclusion of a control group, which received standard care alone, followed by an intervention group, which in addition received early SCN follow-up. Setting The cleft lip and palate team at a University hospital. Participants 70 families (69 mothers and 57 fathers); control group (n = 38); intervention group (n = 32). Intervention SCNs offered a consultation at the maternity ward and follow-ups by phone or face-to-face at one, three, eight weeks and six months after birth. Outcome measures Use of Internet-Questionnaire, Quality of discharge teaching scale (QDTS), Post discharge coping difficulty scale (PDCDS), Response on follow-up by health professionals. Results Infants in the intervention group were admitted less frequently to a Neonatal Intensive Care unit (NICU); 21.9% vs 51.4%, P = .012. Parents in the intervention group used internet for cleft-related reasons less frequently (74.6% vs 85.9%), P = .112 and the mothers benefitted less from cleft-related activity on the internet ( P = .013). The intervention group reported higher mean score for satisfaction with total cleft care ( P = .001). There were no significant group differences regarding mean total score for discharge teaching ( P = .315) and coping difficulties ( P = .919). Conclusion Early follow-up by a SCN with expertise in cleft care is highly valued by parents. Closer cooperation between the cleft team and health professionals at birth hospitals and Child health centers is necessary for optimal follow-up.

Background Huntington's disease (HD) is a neurodegenerative disease characterized by a triad of motor, cognitive and psychological symptoms, leading to a gradual breakdown of communication skills. Few studies have investigated how people affected by HD and their professional caregivers, for example, medical doctors, physiotherapists and nurses, experience the patients' gradual loss of speech and language. Aims To examine communication-related experiences of patients and professional caregivers. Experiences with speech therapy and the use of augmentative and alternative communication aids (AAC) were also investigated. Methods & procedures Seven individuals with HD and seven professional caregivers were interviewed individually, using a semi-structured interview guide. Transcripts were analysed using a conventional content analysis, and the results presented in three main categories. Outcomes & results Most individuals with HD were aware of having communication difficulties, struggling with understanding others as well as being understood. This was confirmed by professional caregivers, who also raised ethical issues encountered when patients struggled with communication. Both groups talked about external factors (such as noise or crowded social settings) as disrupting communication, and shared recommendations on how people in general, and speech and language therapists (SLTs) in particular, could optimize communication. Very few patients had received information about communication aids, and none was using AACs. Professional caregivers underlined the importance of interdisciplinary collaborations, including SLTs, in order to optimize care. Conclusions & implications Findings shed a light on everyday communication challenges faced by people with HD and their professional caregivers, and the lack of implementation of communication aids in this group. The dramatic impact of HD on patients' communication skills underscores the need to include SLTs in the follow-up of this patient group, ideally from the early stages of the disease, while the patient is still capable of voicing his/her own wishes and thoughts. Future research that explores how to optimize communication and implement the use of AACs for individuals with HD is needed. What this paper adds What is already known on this subject Although the ability to communicate gradually deteriorates in individuals affected by Huntington's disease (HD), there is little knowledge about how affected individuals experience the loss of speech and language skills. Interdisciplinary care is recognised as essential for this patient group. However, professional caregivers' thoughts and experiences of communicating with their patients have not been fully explored. Recent years have seen a rapid growth of available communication supporting technologies that could potentially be helpful for individuals with HD, but limited attention has been given to this subject. What this paper adds to existing knowledge What do we now know as a result of this study that we did not know before the results highlight that patients are aware of problems with speech and language even in early phases of the disease, and include patients' personal outlook on problems with communication. Professional caregivers raised ethical issues encountered when patients struggled with communication. Both groups described specific strategies that could facilitate communication. There was a significant lack of experience and knowledge about augmentative and alternative communication aids (AACs). What are the potential or actual clinical implications of this work? Clinical implications of this study. The introduction of communication aids in the follow-up of patients with HD needs to be discussed with the patients in the early phases of the disease, and implemented while the individual still has the capacity to learn and take advantage of alternative communication support. Results underline the importance of including speech and language therapists (SLTs) into multidisciplinary care of patients with HD. SLTs should be available also for professional caregivers who need advice on how to facilitate conversations and social interactions, in order to optimise care of patients with HD.

This paper describes 20 years of microtia and craniofacial microsomia (CFM) psychosocial and healthcare studies and suggests directions for clinical care and research. A narrative review of papers January 2000 to July 2021 related to psychosocial and healthcare experiences of individuals with microtia and CFM and their families. Studies (N = 64) were mainly cross-sectional (69%), included a range of standardized measures (64%), and were with European (31%), American (27%), or multinational (23%) samples. Data were generally collected from both patients and caregivers (38%) or patient self-report (35%). Sample sizes were 11 to 25 (21%), 26 to 50 (19%), 51 to 100 (22%), or over 100 (38%). Studies addressed 5 primary topics: (1) Healthcare Experiences, including Medical Care, Hearing Loss/Amplification, Diagnostic Experiences, and Information Preferences; (2) Psychosocial Experiences, including Teasing, Behavioral Adjustment, Psychosocial Support, and Public Perception; (3) Neurocognitive Functioning and Academic Assistance; (4) Pre- and Post-Operative Psychosocial Outcomes of Ear Reconstruction/Canaloplasty; and (5) Quality of Life and Patient Satisfaction. Care involved multiple specialties and was often experienced as stressful starting at diagnosis. Psychosocial and neurocognitive functioning were generally in the average range, with possible risk for social and language concerns. Coping and resiliency were described into adulthood. Satisfaction and positive benefit of ear reconstruction/canaloplasty were high. Care recommendations include increasing: hearing amplification use, microtia and CFM knowledge among providers, efficient treatment coordination, psychosocial support, academic assistance, and advances to minimize surgical scarring. This broad literature overview informs clinical practice and research to improve psychosocial outcomes.

Objectives Evaluate trends over time in age- and cause of death in males with haemophilia (PWH) in Norway compared with the general male population and investigate its correlates with improvements in haemophilia treatment. Methods Data about age and cause of death in the period of 1986-2018, from two independent, high-quality national registries: the Norwegian Cause of Death Registry (NCoDR) and the patient registry at Centre for Rare Disorders (CRD), Oslo University Hospital. Results Life expectancy increased significantly from 1986 to 2018. However, PWH still had a decreased mean age at death of 56.8 years (SD = 24.7) in the NCoDR and 58.6 years (SD = 21.7) in the CRD data, compared with 73.9 years (SD = 16.3) in the general male population. There was a distinct shift in the most frequently reported haemophilia-related causes of death, such as haemorrhage and AIDS, to more age-related causes of death, such as cancer, reflecting an ageing population. Conclusion Haemophilia treatment has improved significantly in the last three decades. Despite treatment-related improvements, PWH in Norway still have a decreased life expectancy compared with the general male population.

Background The average age for the onset of Huntington's disease (HD) is an age when many people have children and caretaking responsibilities; HD is therefore likely to impact the whole family, including children and adolescents. Despite an increased understanding of the challenges for young people of growing up in a family affected by HD, a continuing lack of available knowledge has led to inadequate youth-focused support in many countries. Objective This study explored the risks of growing up in a family affected by HD, and provided a participant-generated overview of the main challenges the participants experienced, in order to enhance awareness and promote more youth-focused support. Methods As part of a larger national study, this qualitative paper included 36 semi-structured interviews with young people and adults who had previous or current experiences of growing up in families affected by HD. The interviews were analysed using thematic analysis. Results The participants described challenges relating to four main domains of everyday life: family functioning, emotions and reactions, social functioning, and public and care services. Conclusion This study contributes to an increased understanding of risk factors posed on young people by growing up with a parent with HD. The study highlighted challenges in several areas of life presenting a risk to the overall health and functioning of young people. We propose that this knowledge should be applied within a bioecological framework, to increase understanding and promote awareness of the possible risks posed, for young people, by HD.

To investigate parents’ reflections and experiences of having a child born with an appearance-altering condition, interviews with 33 parents of children born with rare craniofacial conditions were analyzed using inductive thematic analysis. Three themes emerged: “Managing emotions: A dynamic process,” “Through another lens: External reminders of difference,” and “Awareness of difference: Approaching the child.” Findings suggest that although parents learned to accept and love their child’s visible difference, external factors such as appearance-altering surgery and other people’s reactions activated difficult emotions in parents. Parents struggled to decipher whether and when to raise appearance-related issues with their child, and how this could be done without distressing the child. Anticipatory guidance that facilitates positive appearance-focused conversations both within and outside the home seems to be needed. Parenting skills could also be strengthened by preparing parents for social reactions to the child’s visible difference, and their child’s changed appearance following surgery.

BACKGROUND Adolescents with a condition affecting their appearance that results in a visible difference can be at risk of psychosocial distress and impaired adjustment. Evidence for the effectiveness of existing interventions in improving psychosocial outcomes is limited and relevant treatment can be difficult to access. Young Person’s Face IT (YPF), a novel self-guided web-based intervention, has demonstrated potential in reducing social anxiety in adolescents with visible differences. However, more knowledge is needed regarding factors that contribute to variations in intervention effects in order to identify which adolescents may benefit most from YPF. OBJECTIVE This study aimed to identify predictors related to overall intervention effects following adolescents’ use of YPF. METHODS N=71 adolescents (61% girls; mean age 13.98, range 11–18 years) with a wide range of visible differences completed primary (body esteem and social anxiety symptoms) and secondary (perceived stigmatization, life disengagement, and self-rated health) outcome measures, at baseline and post-intervention. Predictor variables were demographic (age and gender), psychosocial (frequency of teasing experiences related to aspects of body and appearance, and depressive and/or anxiety symptoms), and intervention-related (time spent on YPF) factors. RESULTS Backward multiple regression revealed that higher intervention effects were predicted by gender, baseline frequency of teasing experiences, levels of depressive and/or anxiety symptoms, and time spent on YPF. However, the results were limited by low proportion of explained post-intervention variance, ranging from 1.6 to 24.1%. CONCLUSIONS This study suggests that adolescent boys, adolescents who experience higher levels of psychosocial distress related to their visible difference, and adolescents that spend sufficient time on YPF, may obtain better overall intervention effects. CLINICALTRIAL NCT03165331

Online interventions have the potential to reach individuals who are otherwise difficult to engage due to stigma and sensitive topics. However, these individuals also tend to be hard to recruit in clinical trials, a crucial step in order to provide evidence-based interventions. This highlights a need for more information about efficient recruitment strategies for difficult-to-engage groups. The present study aimed to share the systematised experiences of recruiting adolescents with a visible difference to an online psychosocial intervention RCT. With the intention to recruit 160 participants (age 12–17), recruitment efforts were nationwide and included multiple arenas (e.g., hospitals, schools, social media), and methods (e.g., in-consultation, targeted letters, posters). Ultimately, 102 participants were recruited, and results showed that recruitment involving patient organisations, hospital departments, and specialised resource centres were most successful in reaching participants. The most efficient recruitment strategy was targeted letters sent home to eligible patients/members, as 78% of the participants were recruited this way. Media and social media recruitment efforts yielded comparatively few participants. No participants were recruited through schools and educational health care services, primary health care services, or municipal and regional authorities. Our results are discussed in relation to barriers with recruiting difficult-to-engage groups to RCTs, providing useful recruitment tools to future similar studies. For instance, future studies are recommended to utilise targeted approaches over general population approaches. Also, results from recruitment efforts should routinely be reported, as this ultimately will provide more general strategies for effective recruitment and support studies in reaching recruitment goals., Highlights • Studies about efficient trial recruitment for difficult-to-engage groups are lacking • Adolescents with a visible difference tend to be difficult to engage in research • Successful recruitment include patient organisations and specialised units • The most efficient recruitment method is targeted letters • Results from recruitment efforts should routinely be reported

Background Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address the lack of generalized and synthesized knowledge regarding parents’ experiences of having a child with a rare genetic disorder, and give a holistic picture of these experiences, a systematic review of the available qualitative research was conducted. Methods We performed a systematic review, including qualitative studies on parents of children with rare genetic disorders, published between 2000 and 2020. Results The review included 33 qualitative studies. Findings were synthesized and categorized according to three main themes: Parents’ experiences with health care, Responsibilities and challenges, and Factors promoting positive experiences in parents. The findings demonstrate that parents of children with rare genetic disorders share many common challenges, despite evident differences across conditions. Conclusion Coordinated care, and a more holistic approach in the follow up of children with rare genetic disorders is needed. International collaboration on research, diagnostics, producing scientific correct and understandable information available for health care professionals and lay people should be prioritized.

Objective: Childhood is a period of extensive socioemotional development, which can be impacted by the presence of a congenital craniofacial anomaly (CFA). Complex multidisciplinary treatment and long-term follow-up are normally required, yet understanding of children’s treatment experiences is limited. The objective of this study was to investigate children’s experiences of multidisciplinary team (MDT) consultations from the perspective of their parents. Design: Thirty-eight parents of children with a rare CFA were interviewed in person or over the telephone. Interviews were transcribed verbatim, translated into English, and explored using thematic analysis. Results: Background factors influencing the child’s experience of the consultation included age, developmental stage, personality, and prior treatment experiences. Participants tried to prepare their child for meeting the MDT, but did not fully understand what to expect themselves. During consultations, participants were acutely focused on their child’s emotional state, making it difficult to balance their desire to protect the child from potentially negative experiences, and the need to engage in a constructive dialogue with health professionals. Participants believed that health professionals’ conduct could considerably influence the child’s well-being and subsequent treatment decisions. Finally, participants highlighted the need to debrief their child to help them adjust positively. Conclusions: The ultimate goal of craniofacial care is to help children develop into confident adults who are able to cope with the challenges associated with their condition. Multidisciplinary teams play a vital role in creating a safe and supportive environment in which children feel genuinely informed and involved in key aspects of their care.

Objective: The present study investigated how adults with congenital craniofacial anomalies (CFAs) and parents experience the long-term and complex treatment offered by a multidisciplinary team (MDT). Design: Exploratory-descriptive qualitative study based on individual semistructured interviews. Setting: Centralized national follow-up and treatment of CFAs by a multidisciplinary craniofacial team from which participants were systematically recruited. Participants: The sample included 48 parents of children with CFAs and 16 adults with CFAs (N = 64). Results: In general, participants reported to be satisfied with the follow-up and treatment they received from the MDT. Still, some aspects of treatment were experienced as demanding such as the large number of health professionals present during the consultation and being the object of their scrutinizing attention. Health professionals’ communication skills were described as central for participants’ involvement in, and satisfaction with, treatment. Participants also expressed a need for more treatment-related information regarding future treatment. Conclusions: Findings could have implications for the organization of care for parents and patients with rare CFAs. The many advantages of MDTs also create unique challenges for patients and parents that need to be addressed. Patients and families should be prepared for the first consultation with the MDT. Health professionals should be aware of their communication style when interacting with patients and be aware of individual differences and needs regarding treatment-related experiences and expectations.

Background:This study investigated the associations between hypernasality and intelligibility, and language and reading skills in 10-year old children with a cleft palate ± lip.Design:Cross-sectional data collected during routine assessments of speech and language in a centralized treatment setting.Participants:Children aged 10, born with cleft palate ± lip from 4 birth cohorts (N = 123).Outcome Measures:Hypernasality and intelligibility: Swedish Articulation and Nasality Test-N; language: Language 6-16 (Sentence recall, Serial recall, Vocabulary); reading: word chain test and reading comprehension test.Results:A total of 71.3% of the children had no occurrence of hypernasality and 82.8% had intelligibility scores within the normal range. For all children with hypernasality and intelligibility within the normal range, reading and language scores were also within normal ranges. Children with presence of hypernasality had significantly lower language skills, with mean scores within the lower normal range. Children with reduced intelligibility had lower scores on reading comprehension.Conclusions:The findings highlight a possible association between hypernasality and language skills, and intelligibility and reading skills. Cleft teams should consider routine assessments of language and reading skills in children with speech impairment, in order to identify potential needs for intervention as early as possible.

Objective Excessive adversity in childhood can have long-term consequences on health and well-being. One group of children that may be at risk are those who grow up with a parent with Huntington’s disease (HD). Despite this, there is little knowledge about how these children are impacted by adversity. We aimed to explore adverse childhood experiences (ACEs) of individuals who grew up with a parent with HD and their perceptions of caregiver support. Design Semi-structured qualitative interviews of 36 adults and adolescents were analysed using interpretative phenomenological analysis (IPA). Results First, the analysis revealed a range of frequent adverse events during participants’ childhoods, leading to feelings of uncertainty, loss, fear, and a lack of care. Next, how the presence or absence of support had impacted participants’ perceptions of these experiences was analysed. Results showed that participants without support were often overwhelmed by feelings of stress, whereas participants with support tolerated adversity better. Conclusion Findings suggest that children in families with HD can be exposed to a range of adverse experiences. Findings also suggest that sufficient support from a caregiver without HD can buffer or protect against negative consequences of these experiences.

Objective An increasing number of patients use social media for health-related information and social support. This study's objective was to describe the content posted on Facebook groups for individuals with microtia and/or craniofacial microsomia (CFM) and their families in order for providers to gain insight into patient and family needs and experiences to inform clinical care. Methods Two months of posts, images, comments, and “like” responses from two Facebook groups in the US and the UK were recorded and analyzed using content analysis. A secondary analysis identified statements of emotion. Results Posts (N = 254) had a total of 7912 “like” responses, 2245 comments, and 153 images. There were three categories of posts: seeking guidance (43%; 9 themes), promoting events/news (33%; 5 themes), and sharing experiences (24%; 3 themes). Across categories, 16% of posts had emotional content. Most comments were responding to posts seeking guidance, including medical care (20%), surgical care (9%), and hearing aids (5%). Promotional posts often aimed to increase CFM awareness. Posts sharing experiences were generally positive, with the highest number of “likes”. Conclusions Facebook groups members frequently exchanged health-related information, suggesting value placed on input from other families and the convenience of seeking information online. Posts also promoted awareness and shared experiences. Clinical care implications include the need for easily accessible accurate and tailored CFM-related health education. Additionally, providers should demonstrate awareness of health information on social media and may address the potential emotional impact of CFM by facilitating access to resources for social support.

Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess. Exposure to androgens prenatally might lead to ambiguous genitalia. The fetal brain develops in traditional male direction through a direct action of androgens on the developing nerve cells, or in the traditional female direction in the absence of androgens. This may indicate that sexual development, including sexual orientation, are programmed into our brain structures prenatally. The objective of this study was to perform a systematic review of the literature, investigating sexual orientation in individuals with CAH. The study also aimed at identifying which measures are used to define sexual orientation across studies. The review is based on articles identified through a comprehensive search of the OVIDMedline, PsycINFO, CINAHL, and Web of Science databases published up to May 2019. All peer-reviewed articles investigating sexual orientation in people with CAH were included. Quantitative, qualitative, and mixed methods were considered, as well as self-, parent-, and third-party reports, and no age or language restrictions were enforced on publications. The present review included 30 studies investigating sexual orientation in patients with CAH assigned female at birth (46, XX) (n = 927) or assigned male at birth (46, XY and 46, XX) (n = 274). Results indicate that assigned females at birth (46, XX) with CAH had a greater likelihood to not have an exclusively heterosexual orientation than females from the general population, whereas no assigned males at birth (46, XY or 46, XX) with CAH identified themselves as non-heterosexual. There was a wide diversity in measures used and a preference for unvalidated and self-constructed interviews. Hence, the results need to be interpreted with caution. Methodological weaknesses might have led to non-heterosexual orientation being overestimated or underestimated. The methodological challenges identified by this review should be further investigated in future studies.

Background: The birth of a child with a congenital craniofacial anomaly (CFA) can have a profound psychological impact on the family. Despite the complexity and variability in treatment for these rare conditions, few studies have been conducted into parents’ emotional responses to health-care experiences. The aim of the present study was to investigate parents’ subjective experiences of their child’s condition and treatment using an in-depth qualitative approach. Methods: Individual semistructured interviews were conducted in person or over the telephone with 48 parents of children with a range of rare CFAs. Interviews were transcribed verbatim, translated into English, and analyzed using inductive thematic analysis. Results: Participants reported physical and psychological symptoms that could be indicative of medical traumatic stress in relation to their child’s diagnosis and treatment. Participants described feelings of powerlessness and the weight of being responsible for their child’s care. Yet, participants also reported that as a result of their experiences, their perspective on life had changed and they had grown in self-confidence. Conclusions: The findings provide insight into the complex physical and psychological effects experienced by parents in response to their child’s diagnosis and medical treatment, as well as an understanding of how these experiences may also result in personal growth over time. Implementation of trauma-informed evidence-based resources should be considered in craniofacial care and future research, particularly in regard to prevention and treatment of psychological distress.

Background LCS1 (Lymphedema Cholestasis Syndrome 1/Aagenaes syndrome) is a rare, hereditary disorder, where the highest known prevalence is in Norway. The disorder is characterized by lymphedema and periodic cholestasis from birth or the neonatal period. This study aimed to examine internal reliability of the SF-36, in addition to the group’s overall- and health related quality of life (OQoL and HRQoL) and psychosocial well-being. Methods Twenty adults (aged 18–65) in Norway have been diagnosed with LSC1. Eighteen of these patients were included in the study and completed four questionnaires on overall and health related quality of life and psychosocial well-being: Cantril’s Ladder (CL), The Kaasa Test, the SF-36, and a lymphedema anamnesis questionnaire. Demographic data were registered, and 15 of the patients underwent a physical examination of the lymphedema. SF-36 scores were compared with those of 360 age and gender matched controls drawn from an earlier survey of the Norwegian general population. The Mann-Whitney U test and Chi-square (χ2) test were used to test internal differences in the patient group. Results Health-related quality of life (HRQOL) was significantly reduced in patients with LSC1 compared to controls, in three out of eight areas, role physical, general health and mental health. Females scored significantly better than males in the patient group in two areas of SF-36, in CL, and in one of three scales of The Kaasa Test. Severe lymphedema was found to be significantly correlated to bodily pain and reduced mental health. The level of education was positively correlated to mental health. Conclusion Overall quality of life (OQoL), health related quality of life (HRQoL) and psycho-social well-being were good in the patient group, but some dimensions of HRQoL were reduced. More severe extent of lymphedema was associated with poorer HRQoL.

© 2018, American Cleft Palate-Craniofacial Association. Although cleft lip and/or palate (CL/P) has been a focus of psychological research for a number of years, investigation of adjustment to other, rarer craniofacial anomalies (CFAs) has been scarce. Yet, many features of the journey experienced by patients with CL/P could also have relevance for those affected by other CFAs and vice versa. This brief article summarizes the literature pertaining to psychological adjustment across both craniofacial groups, as represented by several prominent review articles. Similarities across the 2 patient groups in relation to key domains of psychological adjustment and corresponding factors are identified. Consequently, a standardized approach to measurement across all congenital craniofacial conditions is proposed, alongside suggestions for the potential application of similar intervention frameworks and clinical approaches.

Satisfaction with appearance is of central importance for psychological well-being and health. For individuals with an unusual appearance, such as congenital craniofacial anomalies (CFA), appearance evaluations could be especially important. However, few, if any papers have presented a comprehensive synthesis of the factors found to affect subjective satisfaction with appearance among children, adolescents, and adults born with a CFA. Further, only a handful of craniofacial studies have applied psychological theories or models to their findings, resulting in an overall lack of guidance for researchers in the field. This paper summarises the literature pertaining to satisfaction with appearance among those affected by CFAs, and examines the extent to which Cash’s cognitive-behavioural model of body image development (2012) fits with this literature. Given the overlap between factors of interest in the field of CFAs, and in the area of body image more broadly, a closer collaboration between the two research fields is suggested.

Background: The literature offers discrepant findings regarding age at death in individuals with Huntington disease (HD). Objective: To study the age at death and causes of death in males and females with a diagnosis of HD in Norway. Methods: Registry study of deaths in 1986–2015 using data from two national registries: the Norwegian Cause of Death Registry (NCDR) and the registry of the Centre for Rare Disorders (CRD), Oslo University Hospital. Results: Mean age at death for individuals with HD was found to be 63.9 years (NCDR) and 61.7 years (CRD), compared to a mean of 76.9 years in the general population (NCDR). There were no significant gender differences for age at death in individuals with HD. The significant increase in age at death within the general population from 1986 to 2015 was not observed in individuals with HD. In 73.5% of individuals with HD, the underlying cause of death was HD, followed by cardiovascular diseases, cancer and respiratory diseases. The most common immediate cause of death was respiratory diseases (44.2%). Suicide was a more common cause of death in the population with HD (2.3%) compared to the general population (1.3%). Conclusion: The age at death of individuals with HD was stable over a period of 30 years and 13.3 years lower than in the general population. Longer life expectancy for females from the general population was not found in females with HD. Suicide was more common among individuals with HD compared to the general population.

Objective:Informant discrepancies on psychological measures may affect the assessment, classification, and treatment of children’s mental health. Concordance between different informants has been shown to be low to moderately correlated. The present study examined the agreement between children with cleft lip and/or palate (CL/P) and their parents.Design:Cross-sectional data from 7 consecutive birth cohorts based on routine psychological assessments at age 10 with comparisons to national reference groups.Setting:Centralized and multidisciplinary treatment setting.Participants:323 children age 10, born with CL/P and their parents (participation rate: 89%).Outcome measures:Strengths and Difficulties Questionnaire (SDQ).Results:Children born with CL/P and their parents tend to follow similar patterns of disagreement on the SDQ as reported in the general population, with children reporting more symptoms than their parents, and boys having more problems than girls on most subscales. Child and parent reports were low to moderately correlated, and not affected by the child’s gender or the presence of conditions additional to the cleft.Conclusions:Differences between informants on the SDQ reflect different perspectives of the child’s adjustment, and both informants are important in the assessment of mental health. Children with CL/P and their parents do not significantly differ from children and parents in the general population on their agreement of the child’s psychological adjustment. As with the general population, clinical assessments should be based on a mixture of both informants’ reports.

Background: Autologous fat transplantation has been used to treat mild velopharyngeal insufficiency (VPI) for the last two decades. The effectiveness of this technique has been evaluated by assessing speech and measuring velopharyngeal closure. Few studies have considered the subjective opinion of the patient and their parents. This study aimed to evaluate the quality of life (QOL) of patients who had undergone fat transplantation using a validated questionnaire, VPI Effects on Life Outcome (VELO). Patients and methods: Two copies of the questionnaire VELO were administered to 26 patients with mild VPI who had undergone fat transplantation between 2006 and 2015. All patients were nonsyndromic, and 17 of them had cleft palate. All clefts had been repaired prior to fat transplantation. Both patients and their parents, for those younger than 18 years, completed two questionnaires each: the first one referred to the preoperation QOL, while the second one referred to the current QOL. Results: The total score and “Speech limitations,” “Situational difficulty,” and “Emotional impact” subscores improved significantly (p

Background and aim: Parents of children with a cleft lip and palate may be emotionally affected by the child’s diagnosis. Their experiences and perceptions are important when evaluating the complexity of satisfactory treatment outcomes. The objective was to examine parents’ social and emotional experiences related to their child’s cleft diagnosis, and their perceptions of the child’s adjustment to living with a visible difference. Design: International multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. Methods: A cohort of 448 children born with a non-syndromic UCLP were included. A total of 356 parents completed the Scandcleft Parent Questionnaire. Results: The majority of parents experienced practical and emotional support from family, friends, and health professionals. Nevertheless, parents had to cope with other people’s reactions to the cleft, experiences that were described as ranging from hurtful to neutral and/or positive. According to parents, 39% of the children had experienced cleft-related comments and/or teasing. More than half of the parents reported specific worries related to their child’s future. Conclusion: While the majority of the parents experienced positive support and coped well with the child’s diagnosis, some parents were at risk for psychological and emotional challenges that should be identified by the cleft team. To optimise outcomes and the child’s adjustment, these parents should be offered psychological support when necessary. Trial registration: ISRCTN29932826.

Purpose This study reports outcomes from a stuttering therapy approach that combines value and awareness-based elements from Acceptance and Commitment Therapy (ACT) with those of stuttering and speech modification interventions. The approach, entitled Multidimensional Individualized Stuttering Therapy (MIST), includes a combined clinician and client selection of factors across five areas: 1) general breathing patterns and body tension, 2) breathing patterns during speech production, 3) vocal features in speech production, 4) value and mindfulness-based strategies, and 5) general communication and/or presentation skills. The aims of this study were to evaluate whether the MIST a) reduces the impact of stuttering and stuttering severity, and b) has a positive impact on speaking ability, confidence in communication, avoidance-behavior, and quality of life. Method Eighteen adults, age 21–61 years took part in an A-B-A multiple case study design. Participants underwent a pre-clinic assessment phase, followed by 10 h of therapy over four sessions administered by an experienced speech-language therapist. Outcome measures examined both psychosocial and behavioral aspects of therapy three-, six- and twelve-months post-therapy. Results Most participants chose elements from at least four of the five areas of focus. There was a significant reduction in the impact of stuttering at both 6- and 12-months post-therapy, with moderate (d = .71) to very large (d = 1.06) effect sizes. A strong association was found between overall satisfaction with MIST and improved speaking abilities. Moderate to strong associations were also found between experienced speaking abilities, confidence in communication, reduction in avoidance behaviors and improved quality of life. Discussion Findings indicate that MIST can be effective in managing adult stuttering. The findings highlight the importance of shared decision making and personal considerations using flexible therapy approaches that integrate stuttering and speech modification interventions with value and awareness-based skills. The nature of a multidimensional individualized approach, as shown in this study, highlights the importance of adjusting the relative weighting of different subcomponents according to each individual’s needs and goals. Conclusion MIST was shown to be efficacious in clinical settings and effective in real life settings. Findings were promising, despite a relatively small sample, and replication by other SLPs and with larger samples is warranted.

There is a lack of qualitative research investigating the experience of individuals at risk for Huntington's disease (HD) during the period prior to undergoing predictive testing, as well as their reaction to the test result. This secondary analysis study aimed to explore the experiences during the predictive testing process of individuals who had been or who were at risk for HD. For the primary study, in-depth semi-structured interviews were conducted, and data were analyzed using inductive thematic analysis. We employed the explorative qualitative design for this study, which involved 33 individuals who had been or who were at risk for HD. Results indicate that many had been anticipating the onset of the disease even before they knew their mutation status. Their choice of whether to get tested or not was influenced by personal, social, and practical factors. Whether the test result was positive or negative, coping with the test result was reported to be difficult. Participants with a mutation-negative result felt a need for more follow-up consultations than what they had received. Findings indicate that the decision to undergo predictive testing for HD was not only a personal choice, but was also influenced by both proximal and distant factors. Similar to individuals who tested positive for the mutation, individuals who tested negative for the mutation may need comprehensive follow-up to adapt to the reality of the test result.

Background Common variable immunodeficiency (CVID) and other primary antibody deficiencies (PAD) are a heterogeneous group of > 300 congenital disorders affecting the immune system. Until recently, efforts to measure health-related quality of life (QoL) in PAD patients have utilised generic QoL tools and disease-specific tools for other conditions. Still, the full impact of the disease is probably not understood. We evaluated the performance of the CVID_QoL, a novel disease-specific QoL instrument for adults with CVID, on Norwegian PAD patients and compared the results to those of the generic WHOQOL-BREF. Methods Respondents were recruited through the Norwegian Centre for Rare Disorders’ patient database. Included patients fulfilled the following criteria (all three): 1.) Age ≥18 years, 2.) a PAD diagnosis, 3.) currently on immunoglobulin therapy. The CVID_QoL is a 32-item questionnaire. Global CVID_QoL scores were compared between Norwegian PAD patients and Italian CVID patients. Results In total, 83 PAD patients filled out the CVID_QoL, 63% had CVID, 76% were females. 32 patients filled out the WHOQOL-BREF. Feasibility was high (

Background\ud \ud Multiple factors can influence the working alliance and treatment outcome in speech and language therapy. The ‘working alliance’ is an important concept in treatment and can be described as the degree to which a treatment dyad is engaged in collaborative, purposive work. To date, relatively little attention has been paid to this concept within speech and language treatment in general, and within stuttering treatment research in particular.\ud \ud \ud Aims\ud \ud To investigate the role of the working alliance within stuttering treatment, and to evaluate whether the quality of the working alliance correlated with clients’ concept of motivation and treatment outcomes 6 months post‐therapy.\ud \ud \ud Methods & Procedures\ud \ud Eighteen adults (21‐61 years) participated in this multiple single‐case treatment study, with treatment facilitated by an experienced speech and language therapist. The working alliance was investigated using the Working Alliance Inventory—Short Version Revised (WAI‐SR), an Extended version of the Client Preferences for Stuttering Treatment (CPST‐E), the Overall Assessment of Speakers’ Experience of Stuttering—Adult version (OASES‐A), the Wright & Ayre Stuttering Self‐Rating Profile (WASSP) and the Hospital Anxiety and Depression Scale (HADS).\ud \ud \ud Outcomes & Results\ud \ud Analyses demonstrated significant associations between the working alliance and client motivation (r = 0.781) and treatment outcomes (r = 0.644) 6 months post‐treatment. The association between client‐led goals and therapy tasks appeared particularly important.\ud \ud \ud Conclusions & Implications\ud \ud The working alliance between speech and language therapists and persons who stutter matters. Within the alliance, the level of client–clinician agreement on treatment goals and therapy tasks may be of greater importance than the bond between client and clinician. Further research with greater numbers of participants is warranted.

Background Growing up with a cleft lip and/or palate presents a number of challenges for those affected and their families. Understanding why some individuals cope well while others struggle is key to psychological research in this field. A better appreciation of the factors and processes that contribute to psychological adjustment to cleft lip and/or palate (CL/P) from the patient perspective would be of value to both researchers and clinicians. Design Qualitative data elicited from individual interviews with 52 adults born with CL/P. Result Inductive thematic analysis identified three main themes: “background” factors (age, gender, sexual orientation, culture, additional conditions, socioeconomic status, and adoption), “external” factors (treatment autonomy, familial coping and support, salience, public understanding, psychological input, and peer support), and “internal” psychological factors (perceptions of difference, noticeability and teasing, social confidence, internalization of beauty ideals, valence, expectations of treatment, responding to challenges, social comparisons, acceptance, faith, dispositional style, and recognition of strengths and positive growth). Conclusions The number and breadth of factors identified in this study are testament to the importance of psychology in the field of CL/P and may offer guidance in relation to developing and assessing the value of psychological interventions. There is a clear role for psychologists in tackling appearance-related concerns, designing materials, supporting patient decision making, and improving social interaction, as well as providing specialist psychological support. The findings illustrate the potential degree of individual variation in perspectives and offer insight into the conflicting results found within current literature.

Purpose\ud Stuttering affects people in individual ways, and there are multiple factors which may influence a person’s goals when seeking therapy. Even though there is a common consensus that speech-language pathologists should discuss the individual’s goals and expectations for stuttering therapy and outcomes, few studies have systematically investigated this issue.\ud The aims of the present study were to investigate individual motivations and goal-setting related factors in stuttering therapy. The associations between self-reported impact of stuttering and the participants’ perceptions of stuttering interference in communication, speaking abilities, and relationships with other people were also investigated.\ud \ud \ud Method\ud This study is part of a wider-ranging treatment study of individualized stuttering management tailored to the participants’ personal goals and preferences. A mixed method, multiple single-case design was used to address the research questions. Twenty-one adults, age 21-61 years, took part in a pretherapy interview, which also included two quantitative measures: the Client Preferences for Stuttering Therapy-Extended version (CPST-E) and the Overall Assessment of Speakers’ Experience of Stuttering-Adult version (OASES-A). Findings from the study sample was compared with a Norwegian reference group, in order to check for the representativeness of the study sample.\ud \ud \ud Results\ud Quantitative data showed that most participants wanted to focus on both physical and psychological aspects of therapy, and that 95% considered ‘to gain a sense of control over the stuttering’ as important. Participants’ perspectives on their speaking ability and stuttering interference in communication were identified as central factors, particularly in social and professional settings. These outcomes aligned well with the finding of avoidance behaviors, such as avoiding words and speaking situations. Qualitative data identified four main areas that the participants wanted to improve: speech fluency, emotional functioning, activity and participation, and understanding of their stuttering.\ud \ud \ud Conclusion\ud The study confirms that multiple and individual factors may influence the person’s goals for therapy. Goals were mainly anchored in participants’ wish of better coping in real world settings. A high degree of avoidance behavior was reported, suggesting that anxiety, and in particular linguistic-related anxiety needs to be taken into account when addressing social anxiety in fluency disorders.

Background: Recognition of the challenges inherent in psychology research related to cleft lip and/or palate (CL/P) and other craniofacial anomalies (CFAs) is far from novel; yet these challenges continue to limit progress within the field. The aim of the present article was to illustrate these challenges by utilizing data extracted from 2 recent literature reviews pertaining to psychological adjustment within CL/P and CFA research. Design: Data relating to 148 CL/P and 41 CFA studies were extracted, summarized, and compared, using percentages, figures, and χ2 calculations. Results: Comparable patterns were observed in both populations in relation to small sample sizes, wide age ranges, a reliance on data collection from single sites, and limited global coverage. Similarly, only one-third of all studies had used a comparison group, 42% of studies did not include the patient perspective, and fewer than 10% of studies had collected data longitudinally. Qualitative research was lacking across both populations, but particularly in relation to CFA. A higher proportion of CFA studies utilized validated measures and were less likely to exclude patients with additional anomalies. CFA studies most frequently focused on behavior and overall quality of life, while CL/P studies tended to investigate emotional well-being and social experiences. Conclusions: Findings illustrate the variability in research approaches, sampling, measurement, and analysis across both populations. There is a pressing need to address key methodological issues within craniofacial research and to examine the possible similarities and condition-specific differences between CL/P and other congenital craniofacial anomalies.

Objective: To date, research investigating the psychological impact of craniofacial conditions has produced variability across outcomes. The aims of this article were to summarize the challenges that may contribute to this variability, and to offer alternative perspectives and approaches to guide future research and practice. Design: A comprehensive evaluation of papers exploring adjustment to congenital craniofacial conditions was conducted. Methodological approaches and underlying conceptual issues were identified and summarized. Results: The conceptual limitations identified include inherent challenges pertaining to the multifactorial and fluctuating nature of adjustment, a lack of consensus regarding the primary constituents of a positive outcome, scant use of appropriate models and theories, and a predominant focus on “deficits” over “strengths.” The methodological shortcomings identified include a lack of representative samples, biomedical inclusion/exclusion criteria, inconsistency in measurement, a relative absence of the patient perspective, variability in approaches to data analysis and interpretation, and the failure to draw on knowledge from other disciplines and related fields of health research. Findings are believed to be relevant to all disciplines involved in craniofacial research and practice. Conclusions: Existing literature remains markedly affected by a range of conceptual and methodological challenges, despite these challenges being identified 25 years ago. The present article proposes that a shift in the way we conceptualize and study craniofacial conditions is needed, in order to construct a comprehensive understanding of adjustment to craniofacial conditions, and to address the key unanswered questions important to all stakeholders.

Purpose Congenital adrenal hyperplasia (CAH) has been shown to potentially affect psychological adjustment. However, most research has focused on females, and knowledge about psychological challenges in males remains sparse. The aim of this systematic review was therefore to assess these in males with CAH. Methods We systematically searched the OVID Medline, PsycINFO, CINAHL, and Web of Science databases, for articles published up to April 20, 2018, investigating psychological adjustment in males with CAH. Results Eleven studies were included in the review. Three main health domains were identified: psychological and psychiatric health, quality of life (QoL), and self-perceptions of reproductive health. Some studies covered more than one health domain. Seven studies explored psychological adjustment and/or the presence of psychiatric symptoms or disorders. Results indicated that males with CAH had more problems related to internalizing behaviors (negative behaviors directed toward the self) and more negative emotionality compared to reference groups. Six studies examined QoL, five of them reporting reduced QoL compared to reference groups. Three studies explored the impact of fertility and sexual health issues on psychological health with varying results from impaired to normal sexual well-being. Conclusions CAH seems to have an impact on males' psychological health. However, the number of identified studies was limited, included few participants, and revealed divergent findings, demonstrating the need for larger studies and highlighting a number of methodological challenges that should be addressed by future research.

A substantial body of research has demonstrated the challenges commonly facing people with visible differences (disfigurements) and explored the potential benefits offered by specialist psychosocial support and intervention for those who are negatively affected. However, little is known about the availability of such support in Europe for people whose appearance is in any way different to ‘the norm’. This survey of 116 psychosocial specialists from 15 European countries, working with a range of patient groups, has shown a tendency for specialists to prioritise Cognitive-behavioural-based approaches, amongst a wide range of other approaches and interventional techniques. It indicates variations in the availability of support, and a perceived need for improved access to interventions, additional training, and greater awareness of the psychosocial issues associated with visible differences.

Objective To describe Pierre Robin sequence patients with a cleft palate from a multidisciplinary perspective. Patients A total of 104 individuals with Pierre Robin sequence and cleft palate, born between 1980 and 2010. Method Data were collected retrospectively and compared with large control groups. Results Of 104 patients, 19 (18.3%) were treated with a nasopharyngeal or oropharyngeal tube, continuous positive airway pressure, and/or a tracheotomy. The mean weight percentile for newborns with Pierre Robin sequence was 30.9. It decreased to 29.9 at the time of cleft palate repair (mean age, 13.7 months) ( P = .78). Of 87 patients, 30 (34.5%) developed normal speech after cleft palate repair. Of 93 nonsyndromic Pierre Robin sequence patients, 31 (33.3%) had or are having surgery for velopharyngeal insufficiency, a rate that is significantly higher when compared with a control group of cleft palate–only patients (19.4%; P = .004). Of 31 patients, 25 (80.6%) developed normal resonance after surgery for velopharyngeal insufficiency. There was no significant difference in the rate of syndromes between the Pierre Robin sequence patients and a control group of cleft palate patients without Pierre Robin sequence ( P = .25). Seven of 39 boys (17.9%) with Pierre Robin sequence had a diagnosis of autism spectrum disorder. Conclusion Even though the mean weight percentile for newborns with Pierre Robin sequence was low, the patients did not show a growth spurt during the first year of life. The high rate of velopharyngeal insufficiency after cleft palate repair in patients with Pierre Robin sequence needs further investigation. Also, the high rate of autism spectrum disorder among boys with Pierre Robin sequence prompts further investigation.

Objective To describe the frequency of hypodontia and left-right symmetry of hypodontia in the permanent dentition of children with Pierre Robin sequence (PRS). Patients and Method The sample consisted of 78 children born with PRS between 1980 and 2006 and referred to the Oslo Cleft Lip and Palate Team (OCLPT). Data were collected retrospectively from the archives of the OCLPT. Panoramic radiographs were evaluated to document hypodontia; third molars were excluded. Results Of the 78 children with PRS, hypodontia was found in 33 (42%). Of the 33 children with hypodontia, 27 (82%) showed hypodontia in the micrognathic lower arch, 24 (73%) were missing two or more permanent teeth, and 2 (6%) had oligodontia. The teeth most often missing were the mandibular second premolar (72%), followed by the maxillar second premolar (29%). Most cases of hypodontia 21 (64%) occurred bilaterally. Bilateral hypodontia of the mandibular second premolar occurred in 27 (73%) of the patients. Conclusion Hypodontia was found in 33 (42%) of the children with PRS, which is seven times higher than the prevalence among children without PRS (6%). Unlike in the general population, bilateral hypodontia was more common than unilateral hypodontia in the micrognathic mandible of children with PRS.

For the last two decades, autologous fat transplantation has been used to treat mild velopharyngeal insufficiency (VPI); however, there is still disagreement about its effectiveness. The aim of the study was to evaluate the procedure by using speech analysis and magnetic resonance imaging (MRI).This is a prospective study of 47 non-syndromic patients with mild VPI who underwent autologous fat transplantation to the velopharynx between 2006 and 2015. Thirty-two patients had a cleft palate, all of which had been repaired before fat transplantation. Eight patients developed VPI after adenotonsillectomy, one after uvulo-palatoplasty and six had VPI of unknown etiology. Twelve patients underwent two procedures of fat transplantation. Preoperative and 1-year postoperative audio recordings were blinded for scoring independently by three senior speech therapists on a five-point scale. Preoperative and 1-year postoperative MRIs were obtained during phonation, measuring the velopharyngeal distance and the velopharyngeal gap area. Correlations between the speech outcomes and MRI were calculated.Audible nasal emission was the only speech parameter that improved significantly postoperatively (p = 0.005). A significant reduction in both velopharyngeal distance (p 0.005) and the gap area (p 0.005) was found after treatment. A significant improvement in the mobility of the velum was observed after treatment (p = 0.03). There was no significant correlation between speech outcomes and MRI.Autologous fat transplantation for the treatment of mild VPI, although significantly reducing audible nasal emission, made no significant improvement in hypernasality or nasal turbulence. No complications were observed.

Background Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. Methods We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder). Results The review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings. Conclusion The findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.

© 2016 Informa UK Limited, trading as Taylor & Francis Group. Objective: A congenital craniofacial anomaly (CFA) is expected to impact upon several domains of psychological, emotional and social functioning, yet no recent reviews have comprehensively summarised the available literature. Further, existing reviews tend to draw upon literature in the field of cleft lip and palate, and do not give substantive attention to other types of CFAs. Design: A review of 41 papers published between January 2000 and March 2016 pertaining to psychological adjustment to CFAs. Main outcome measures: Findings are presented according to key psychological domains: General Psychological Well-being, Quality of Life, Behaviour, Emotional Well-being, Social Experiences, Appearance, and Treatment-Related Experiences. Results: Current literature offers a contradictory picture of adjustment to CFAs. Psychological adjustment appeared to be comparable to norms and reference groups in approximately half of the papers related to non-syndromic CFAs, while more variation was found across domains among samples with syndromic CFAs. Associations were found between adjustment, physical health and cognitive function in several papers. The review identified a number of gaps in the literature, such as the inclusion of a wide range of diagnoses within research samples. Conclusions: This review demonstrates the complexity of findings, both within and across domains, and highlights a number of methodological challenges.

Background and aims: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project. Method: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3–4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3–4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3–4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes. Results: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years. Conclusion: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series. Trial registration: ISRCTN29932826.

Background and aim: Few studies have explored children’s emotional and behavioural reactions to cleft surgery and treatment-related stress. The objective was to investigate parents’ evaluations of appearance and treatment outcomes in their 5-year-old child with unilateral cleft lip and palate (UCLP), and their perceptions of how their child was coping with treatment, comparing this information with recorded postsurgical complications. Design: Three parallel group randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. Methods: Three different surgical procedures for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. A total of 356 parents completed the Scandcleft Parent Questionnaire, and 346 parents completed the Cleft Evaluation Profile. Results: The results indicated that the majority of parents were satisfied with cleft-related features of their child’s appearance. Further, most children coped well with treatment according to their parents. Nevertheless, 17.5% of the children showed minor or short-term reactions after treatment experiences, and 2% had major or lasting difficulties. There were no significant relationships between parent perceptions of treatment-related problems and the occurrence of post-surgical medical complications. Conclusions: Most parents reported satisfaction with their child’s appearance. However, treatment-related problems were described in some children, urging cleft centres to be aware of potential negative emotional and behavioural reactions to treatment in some young children, with a view to preventing the development of more severe treatment-related anxiety. Trial registration: ISRCTN29932826.

Background Despite the use of multidisciplinary services, little research has addressed issues involved in the care of those with cleft lip and/or palate across disciplines. The aim was to investigate associations between speech, language, reading, and reports of teasing, subjective satisfaction with speech, and psychological adjustment. Design Cross-sectional data collected during routine, multidisciplinary assessments in a centralized treatment setting, including speech and language therapists and clinical psychologists. Participants Children with cleft with palatal involvement aged 10 years from three birth cohorts (N = 170) and their parents. Outcome Measures Speech: SVANTE-N. Language: Language 6-16 (sentence recall, serial recall, vocabulary, and phonological awareness). Reading: Word Chain Test and Reading Comprehension Test. Psychological measures: Strengths and Difficulties Questionnaire and extracts from the Satisfaction With Appearance Scale and Child Experience Questionnaire. Results Reading skills were associated with self- and parent-reported psychological adjustment in the child. Subjective satisfaction with speech was associated with psychological adjustment, while not being consistently associated with speech therapists’ assessments. Parent-reported teasing was found to be associated with lower levels of reading skills. Having a medical and/or psychological condition in addition to the cleft was found to affect speech, language, and reading significantly. Conclusions Cleft teams need to be aware of speech, language, and/or reading problems as potential indicators of psychological risk in children with cleft. This study highlights the importance of multiple reports (self, parent, and specialist) and a multidisciplinary approach to cleft care and research.

Importance Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860). This study used population-based, long-term follow-up data from national registries to focus on the future health outcomes of individuals with cleft and no additional chronic medical conditions or congenital anomalies. A total of 523 individuals were excluded from the study cohort because they declined participation, could not be reached by mail, or had birth defects other than clefts. The final cohort, consisting of 2337 cases with isolated clefts and 1 413 819 unaffected individuals, was followed up until December 31, 2010, using compulsory national registries and clinical data. Data analysis was conducted from February 13, 2014, to April 18, 2016. Exposures Oral clefts. Main Outcomes and Measures Death, intellectual disability, schizophrenia, mood affective disorders, anxiety disorders, autism spectrum disorders, attention deficit/hyperactivity disorder, severe learning disability, cerebral palsy, epilepsy, muscle or skeletal disorders, trauma, and episodes of reduced health. Results Of 2860 individuals born with an oral cleft, 2337 were included in the analysis; of these, 1401 were male (59.9%). Mean (SD) age in 2010 was 30.6 (7.7) years. Compared with unaffected individuals, no increased risks were found regarding morbidity or mortality among persons with isolated cleft lip only. Among individuals with isolated cleft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI, 1.2-4.1) and cerebral palsy (RR, 2.6; 95% CI, 1.1-6.2) were found. Individuals with isolated cleft palate (ie, without cleft lip) had increased mortality (hazard ratio, 3.4; 95% CI, 2.1-5.7) in addition to an increased risk of intellectual disability (RR, 11.5; 95% CI, 8.5-15.6), anxiety disorders (RR, 2.9; 95% CI, 1.3-6.5), autism spectrum disorders (RR, 6.6; 95% CI, 2.8-15.7), severe learning disabilities (RR, 10.6; 95% CI, 5.5-20.2), cerebral palsy (RR, 4.8; 95% CI, 2.3-10.0), epilepsy (RR, 4.9; 95% CI, 2.2-10.8), and muscle or skeletal disorders (RR, 2.7; 95% CI, 1.4-5.4). Conclusions and Relevance Young adults who were born with isolated cleft lip only did not differ significantly from unaffected individuals in their risk of health problems. However, individuals with isolated cleft palate had increased health risks and mortality. This information should be provided to genetic counselors, parents of children with clefts, and health care workers involved in the treatment or follow-up of these children.

© 2016 Elsevier Ltd. Previous research in both the general population and in those with a visible facial difference has identified potential associations between teasing, dissatisfaction with appearance and emotional distress. However, most studies are based on cross-sectional and retrospective methodology, restricting the interpretation of findings. The present study explored the longitudinal impact of perceived teasing on satisfaction with appearance and depressive symptoms in young people with and without a visible congenital condition. Routine psychological assessments were conducted at ages 10 and 16 years (N = 340). Experiences of teasing after the age of 10 significantly impacted on appearance evaluations and depressive symptoms in adolescent females. The impact of teasing on adolescent males was possibly counteracted by reports of more positive social experiences. Early identification of perceived teasing in all children to prevent the development of emotional problems and dissatisfaction with appearance is of vital importance.