Early Experiences of Parents of Children With Craniofacial Microsomia.

OBJECTIVE: To describe the early health care experiences of parents of children with craniofacial microsomia (CFM), a congenital diagnosis often identified at birth. DESIGN: Qualitative descriptive. SETTING: Homes of participants. PARTICIPANTS: Parents of 28 children with CFM from across the United States. METHODS: We interviewed participants (27 mothers individually and one mother and father together) via telephone or teleconference and used reflexive thematic analysis to derive themes that represented early health care experiences of parents of children with CFM. RESULTS: Participants' narratives included detailed recounting of their birth and early care experiences. We identified two overarching themes. The first overarching theme, Stressors, included four subthemes that represented difficulties related to emotional reactions and negative experiences with health care providers. The second overarching theme, Finding Strength, included four subthemes that represented participants' positive adjustment to stressors through independent information seeking about CFM, adaptive coping, positive experiences with health care providers, and drawing on external supports. CONCLUSION: Participants often described early experiences as challenging. Findings have implications for improving early care, including increasing open and supportive communication by health care professionals, expanding access to CFM information, screening for mental health concerns among parents, strengthening coping among parents, and linking families to resources such as reliable online CFM information and early intervention programs.

Parental Stress, Infant Feeding and Well-being in Families Affected by Cleft Lip and/or Cleft Palate: The Impact of Early Follow-up.

OBJECTIVE: To document the impact of early follow-up by specialized cleft nurses (SCNs) provided to families affected by cleft lip and/or palate (CL/P) and the status of parental stress, infant feeding and well-being. DESIGN: Prospective inclusion of a control group, which only received standard care, followed by an intervention group that also received early SCN follow-up. SETTING: The cleft lip and palate team at Oslo University Hospital, Norway. PARTICIPANTS: Seventy families (69 mothers and 57 fathers) distributed into an intervention group (n = 32) and a control group (n = 38). INTERVENTION: SCNs provided a consultation at the maternity ward and a follow-up conversation by phone or face-to-face at scheduled times for six months. OUTCOME MEASURES: Parental Stress Index (PSI), Perceived Stress Scale (PSS-14), feeding questionnaire, survey of infant diets, weight percentiles. RESULTS: The mothers reported higher stress scores than the fathers, but in the control group only in the PSI parent domain at T2 and T3 (P = .007, P = .018). Infants in the intervention group used pacifiers less frequently than in the control group (55.2% vs. 81.1%, P = .023). Otherwise, no significant differences were found between the groups. Overall, the infants received less breast milk than norms. CONCLUSION: Contextual strategies for early follow-up of families affected by clefts need to be developed, with an emphasis on involving fathers and those parents reporting elevated stress and/or feeding difficulties. There is a need for diagnosis-specific guidelines about the use of pacifiers as well as collaboration between the health professionals involved to increase breastmilk feeding.

Are We Together in This? Relationship Experiences of Parents of Children with Craniofacial Anomalies.

OBJECTIVE: The birth of a child with a craniofacial anomaly (CFA) can have a profound psychological impact on the family and the parental relationship. The purpose of this study was to qualitatively investigate how a child's CFA condition affected parents' couple relationship. SETTING: All patients with a CFA are followed-up by the National Unit for Craniofacial Surgery, a specialized and multidisciplinary team. Hence, participants were recruited within a centralized treatment setting. DESIGN: We used a qualitative approach to explore the relationship experiences of parents of children with CFAs. The interviews were analysed using a hermeneutic-phenomenological approach. PARTICIPANTS: The study included 13 parents, nine mothers and four fathers of children with a range of different CFAs. At the time of the interview, 10 participants were married, one was cohabiting, and two were divorced. RESULTS: Most participants perceived their partners as committed and engaged in caring for their affected child and involved in the family's everyday life, and described a strengthened relationship to their partner after the child with a CFA was born. However, some participants struggled in their relationships with their partners, and did not receive the comfort and support they needed during this critical time, leading to feelings of distance and loneliness. CONCLUSIONS: Craniofacial teams should be mindful of the importance of the environment surrounding the child, such as parental relationship and family function. Therefore, a comprehensive approach should be included in team-based care, and couples and families in need of extra support should be referred to relevant specialists.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

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.

It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis.

Background: The ichthyoses are a group of genetic skin disorders, characterized by excessive amounts of dry, thickened skin, which may be fragile, inelastic and prone to fissures and infection. Skin care is time consuming and demanding, and, usually performed by the parents. Methods: We aimed to explore parental experience of caring for a child with ichthyosis, and collected data using semistructured interview, and thematic analysis. Results: Our analysis revealed four main themes: Parents' and others' reactions to the child's difference, Experiences with healthcare services, It's all skin care, and Impact on relationships. Conclusion: After birth of a child with severe ichthyosis, the parents experienced emotional distress and stigmatization due to the different appearance of the skin and healthcare professionals' lack of knowledge. Skin care caused pain in the child, was time consuming, and caused financial burdens. This study can guide healthcare professionals on where to focus future efforts in meeting the clinical and psychological needs of parents caring for a child with ichthyosis.

Isolated oral clefts and school grades: population-based cohort study from Norway.

OBJECTIVE: To compare school grades of adolescents in Norway born with isolated cleft with those of their unaffected peers. DESIGN: Population-based cohort study. SETTING: Norway. PATIENTS: A total of 347 419 individuals born in Norway between 1986 and 1992, including 523 isolated cleft cases which were identified using data from Norway's two treatment centres. Individuals were followed from birth through compulsory school. MAIN OUTCOME MEASURES: Grade point average (GPA) from middle school graduation (around the age of 16). Specific subject grades were also investigated. RESULTS: Using a grade scale from 1-6, the observed mean GPA for the reference group was 3.99. Both cleft lip only (CLO) and cleft lip with cleft palate (CLP) had a mean GPA similar to the reference group (adjusted GPA differences from the reference with 95% CIs of 0.06 (-0.04 to 0.16) and -0.08 (-0.19 to 0.03), respectively). Cleft palate only (CPO) had a marginally lower GPA (adjusted GPA difference: -0.18 (-0.28 to -0.08)). These comparisons were consistent across specific subjects. Overall, the evidence suggests a larger difference in GPA between cases and controls in males compared with females. Females with CLO even had a higher estimated GPA than females in the reference group (adjusted GPA difference: 0.19 (0.013 to 0.36)). Grades were similar regardless of laterality of cleft lip (CLO or CLP). CONCLUSION: In Norway, individuals born with isolated CLO or CLP did not have lower average school grades when graduating from middle school. Individuals born with isolated CPO had marginally lower grades.

What works for whom? Multidimensional individualized stuttering therapy (MIST).

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.

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review.

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.

The Ripple Effect: A Qualitative Overview of Challenges When Growing Up in Families Affected by Huntington's Disease.

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.

Medical Stress Reactions and Personal Growth in Parents of Children With a Rare Craniofacial Condition.

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.

What do people search for in stuttering therapy: Personal goal-setting as a gold standard?

PURPOSE: 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. 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. METHOD: 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. RESULTS: 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. CONCLUSION: 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.

"All Eyes on Me": A Qualitative Study of Parent and Patient Experiences of Multidisciplinary Care in Craniofacial Conditions.

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.

The working alliance in stuttering treatment: a neglected variable?

BACKGROUND: 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. AIMS: 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. METHODS & PROCEDURES: 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). OUTCOMES & RESULTS: 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. CONCLUSIONS & IMPLICATIONS: 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.

Associations Between Hypernasality, Intelligibility, and Language and Reading Skills in 10-Year-Old Children With a Palatal Cleft.

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.

Assessing Psychological Adjustment to Congenital Craniofacial Anomalies: An Illustration of Methodological Challenges.

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.

Comparing Psychological Adjustment Across Cleft and Other Craniofacial Conditions: Implications for Outcome Measurement and Intervention.

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.

Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review.

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.

The provision of specialist psychosocial support for people with visible differences: A European survey.

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.

Factors affecting subjective appearance evaluations among patients with congenital craniofacial conditions: An application of Cash's cognitive-behavioural model of body image development.

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.