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Congenital Genetic Conditions: Challenges, Coping Strategies, and Support Needs over the Life Span

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Children's Health".

Deadline for manuscript submissions: closed (30 September 2021) | Viewed by 21833

Special Issue Editor

1. Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Leopoldina Hospital, 97422 Schweinfurt, Germany
2. Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, 97080 Würzburg, Germany
Interests: child and adolescent psychiatry and psychotherapy in general but with a special focus on the ages 2–7; autism spectrum disorders and disruptive behavior disorders; behavioral problems and parental stress among children with genetic disorders; assessment instruments for 2–7-year-old children; parent–child interaction; parenting programs (e.g., PPP, PCIT)

Special Issue Information

Dear Colleagues,

Congenital genetic conditions have the potential to impact the whole family throughout life. Typically, families with an affected subject have to face a diversity of challenges, e.g., medical, social, financial, and psychological. Normally, the situation is most challenging when there is limited knowledge about effective interventions and/or a lack of support. Experiences, coping strategies, and support needs can be highly variable both between subjects with different genetic conditions and subjects with the same genetic condition. Moreover, they can change significantly as the affected individual moves from childhood through to adult life.

For this Special Issue, we invite authors to submit high-quality contributions related to challenges, coping strategies, and support needs of subjects with genetic conditions. Our aim is to cover a wide range of perspectives and genetic conditions with a special focus on longitudinal studies and very rare genetic conditions. We welcome both original articles (qualitative and quantitative studies) and systematic reviews. Moreover, with regard to very rare genetic conditions, instructive case series and single case reports focusing on potential interventions are also very welcome.

Dr. Wolfgang Briegel
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.

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Keywords

  • Genetic conditions
  • Challenges
  • Support needs
  • Coping strategies
  • Interventions

Published Papers (8 papers)

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Research

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11 pages, 1180 KiB  
Article
Psychological Distress and Coping Ability of Women at High Risk of Hereditary Breast and Ovarian Cancer before Undergoing Genetic Counseling—An Exploratory Study from Germany
by Beate Vajen, Magdalena Rosset, Hannah Wallaschek, Eva Baumann and Brigitte Schlegelberger
Int. J. Environ. Res. Public Health 2021, 18(8), 4338; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph18084338 - 19 Apr 2021
Cited by 2 | Viewed by 2144
Abstract
Carriers of pathogenic variants causing hereditary breast and ovarian cancer (HBOC) are confronted with a high risk to develop malignancies early in life. The present study aimed to determine the type of psychological distress and coping ability in women with a suspicion of [...] Read more.
Carriers of pathogenic variants causing hereditary breast and ovarian cancer (HBOC) are confronted with a high risk to develop malignancies early in life. The present study aimed to determine the type of psychological distress and coping ability in women with a suspicion of HBOC. In particular, we were interested if the self-assessed genetic risk had an influence on health concerns and coping ability. Using a questionnaire established by the German HBOC Consortium, we investigated 255 women with breast cancer and 161 healthy women before they were seen for genetic counseling. The group of healthy women was divided into groups of high and low self-assessed risk. In our study, healthy women with a high self-assessed risk stated the highest stress level and worries about their health and future. A quarter of the women requested psychological support. Overall, only few women (4–11%) stated that they did not feel able to cope with the genetic test result. More women (11–23%, highest values in the low-risk group) worried about the coping ability of relatives. The results of our exploratory study demonstrate that the women, who presented at the Department of Human Genetics, Hanover Medical School, Germany were aware of their genetic risk and had severe concerns about their future health, but still felt able to cope with the genetic test result. Full article
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15 pages, 368 KiB  
Article
Psychological Adjustment of Children and Adolescents with 22q11.2 Deletion Syndrome and Their Mothers’ Stress and Coping—A Longitudinal Study
by Wolfgang Briegel and Christoph Andritschky
Int. J. Environ. Res. Public Health 2021, 18(5), 2707; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph18052707 - 08 Mar 2021
Cited by 9 | Viewed by 2039
Abstract
At present, there is a lack of longitudinal studies on the psychological adjustment of both children and adolescents with 22q11.2 deletion syndrome (22q11.2DS) and their primary caregivers. To fill this gap, we performed a four-year follow-up study. Mothers filled out the Child Behavior [...] Read more.
At present, there is a lack of longitudinal studies on the psychological adjustment of both children and adolescents with 22q11.2 deletion syndrome (22q11.2DS) and their primary caregivers. To fill this gap, we performed a four-year follow-up study. Mothers filled out the Child Behavior Checklist 4–18, the Social Orientation of Parents with Handicapped Children questionnaire to assess maternal stress and coping strategies, and the Freiburger Personality Inventory-Revised—subscales strain and life satisfaction. Fifty-five subjects with 22q11.2DS (26 males and 29 females; age: M = 10.79 years, SD = 3.56 years) and their biological mothers (age: M = 40.84 years, SD = 4.68 years) were included in this study. Significantly higher levels of behavior problems than in the general population and an increase in these problems, especially internalizing ones, over time could be found. In contrast, maternal stress did not change significantly over time, but mothers demonstrated increased levels of strain and reduced life satisfaction at T2. Thus, careful monitoring as well as early and adequate interventions, if indicated, should be offered to families with a child with 22q11.2DS, not only for somatic complaints but also for problems with psychological adjustment. Full article
9 pages, 1344 KiB  
Article
Preliminary Results of Subtalar Arthroereisis with Vulpius Procedure for Symptomatic Flatfoot in Patients with Type I Osteogenesis Imperfecta
by Cheng-Min Hsu, Sheng-Chieh Lin, Kuan-Wen Wu, Ting-Ming Wang, Jia-Feng Chang and Chia-Che Lee
Int. J. Environ. Res. Public Health 2021, 18(1), 67; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph18010067 - 24 Dec 2020
Cited by 1 | Viewed by 2286
Abstract
In this retrospective study, we aim to assess the safety and feasibility of adapting subtalar arthroereisis (SA) for type I osteogenesis imperfecta (OI) patients with symptomatic flatfoot. From December 2013 to January 2018, six type I OI patients (five girls and one boy, [...] Read more.
In this retrospective study, we aim to assess the safety and feasibility of adapting subtalar arthroereisis (SA) for type I osteogenesis imperfecta (OI) patients with symptomatic flatfoot. From December 2013 to January 2018, six type I OI patients (five girls and one boy, 12 feet) with symptomatic flexible flatfoot were treated with SA and the Vulpius procedure. All the patients were ambulatory and skeletally immature with failed conservative treatment and unsatisfactory life quality. The median age at the time of surgery was 10 years (range 5–11), and the median follow-up period was 55 months (range 33–83). All functional and radiographic parameters improved (p < 0.05) after the procedure at the latest follow-up. The median American Orthopaedic Foot and Ankle Society ankle-hindfoot scale improved from 68 (range 38–80) to 95 (range 71–97). All of the patients ambulated well without significant complications. The weight-bearing radiographs showed maintained correction of the tarsal bone alignment with intact bony surfaces adjacent to implants during the post-operative follow-up period. This is the very first study on symptomatic flatfoot in pediatric patients with type I OI. Our data suggest that SA is a potentially viable approach, as functional improvements and maintained radiographic correction without significant complication were observed. Full article
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11 pages, 3980 KiB  
Article
Timing of Spheno-Occipital Synchondrosis Ossification in Children and Adolescents with Cleft Lip and Palate: A Retrospective Case-Control Study
by Francisco Vale, Inês Francisco, António Lucas, Ana Roseiro, Francisco Caramelo and Adriana Sobral
Int. J. Environ. Res. Public Health 2020, 17(23), 8889; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph17238889 - 29 Nov 2020
Cited by 7 | Viewed by 2470
Abstract
Background: Cleft lip and palate (CLP) can affect the development of the maxilla; which may create a midfacial deficiency as well as an interference of the facial growth pattern and dentofacial esthetics. Objective: This study aimed to estimate the chronological age of complete [...] Read more.
Background: Cleft lip and palate (CLP) can affect the development of the maxilla; which may create a midfacial deficiency as well as an interference of the facial growth pattern and dentofacial esthetics. Objective: This study aimed to estimate the chronological age of complete fusion of the spheno-occipital synchondrosis (SOS) in cleft lip and palate patients and a control group; using cone beam computed tomography (CBCT) images. Methods: In this retrospective study; 125 patients were enrolled (cleft lip and palate group (n = 91); control group (n = 34)). Age comparison was made with a chi-square test; and a Kaplan–Meier analysis determined the median time to reach complete fusion of the spheno-occipital synchondrosis (p < 0.05). Results: The experimental group showed statistically significant differences in the median time for complete ossification between males and females (p = 0.019). The median time for complete ossification of the spheno-occipital synchondrosis was; for males; 15.0 years in both groups; for females; it was 14.0 years and 13.0 years in the experimental group and in the control group; respectively. Both for males and females; there were no statistically significant differences between experimental and control groups (p = 0.104). Conclusions: The present study showed no differences in the ossification of the spheno-occipital synchondrosis between individuals with and without cleft lip and/or palate. Full article
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Review

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16 pages, 509 KiB  
Review
A Systematic Review of the Psychosocial Adjustment of Children and Adolescents with Facial Palsy: The Impact of Moebius Syndrome
by Matthew Hotton, Esme Huggons, Claire Hamlet, Kathleen Bogart, David Johnson, Jonathan H. Norris, Sarah Kilcoyne and Louise Dalton
Int. J. Environ. Res. Public Health 2020, 17(15), 5528; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph17155528 - 30 Jul 2020
Cited by 5 | Viewed by 2735
Abstract
Introduction: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published [...] Read more.
Introduction: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy. Methods: MEDLINE, CINAHL, Embase, PsychInfo and AMED databases were searched and data was extracted with regards to participant characteristics, study methodology, outcome measures used, psychosocial adjustment and study quality. Results: Five studies were eligible for inclusion, all of which investigated psychosocial adjustment in participants with Moebius syndrome, a form of congenital facial palsy. Many parents reported their children to have greater social difficulties than general population norms, with difficulties potentially increasing with age. Other areas of psychosocial adjustment, including behaviour, anxiety and depression, were found to be more comparable to the general population. Discussion: Children and adolescents with Moebius syndrome may experience social difficulties. However, they also demonstrate areas of resilience. Further research including individuals with facial palsy of other aetiologies is required in order to determine the psychosocial adjustment of children and adolescents with facial palsy. Full article
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15 pages, 1143 KiB  
Review
Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review
by Elena Pinero-Pinto, Verónica Pérez-Cabezas, Cristina Tous-Rivera, José-María Sánchez-González, Carmen Ruiz-Molinero, José-Jesús Jiménez-Rejano, María-Luisa Benítez-Lugo and María Carmen Sánchez-González
Int. J. Environ. Res. Public Health 2020, 17(12), 4467; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph17124467 - 22 Jun 2020
Cited by 9 | Viewed by 5009
Abstract
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout (ROBO3) gene located on chromosome 11q23–25 are [...] Read more.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout (ROBO3) gene located on chromosome 11q23–25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies redefined the locus responsible for this pathology to a 9-cM region. This study carried out a systematic review in which 25 documents were analyzed, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. The search was made in the following electronic databases from January 1995 to October 2019: PubMed, Scopus, Web of Science, PEDRO, SPORT Discus, and CINAHL. HGPPS requires a multidisciplinary diagnostic approach, in which magnetic resonance imaging might be the first technique to suggest the diagnosis, which should be verified by an analysis of the ROBO3 gene. This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling. Full article
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Other

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16 pages, 352 KiB  
Case Report
Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
by Wolfgang Briegel
Int. J. Environ. Res. Public Health 2021, 18(22), 12064; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph182212064 - 17 Nov 2021
Viewed by 2231
Abstract
1p36 deletion syndrome represents the most common terminal deletion observed in humans. Major clinical findings comprise developmental delay/intellectual disability, poor or absent expressive language, congenital central muscular hypotonia, brain anomalies, brachydactyly/camptodactyly, short feet, and characteristic facial features like straight eyebrows, deep-set eyes, and [...] Read more.
1p36 deletion syndrome represents the most common terminal deletion observed in humans. Major clinical findings comprise developmental delay/intellectual disability, poor or absent expressive language, congenital central muscular hypotonia, brain anomalies, brachydactyly/camptodactyly, short feet, and characteristic facial features like straight eyebrows, deep-set eyes, and midface hypoplasia. So far, there is very limited knowledge about comorbid psychiatric disorders and their effective treatment in this special population. To fill this gap, this case report presents an initially four-year-old girl with 1p36.33–1p36.32 deletion, moderate intellectual disability, insomnia, oppositional-defiant disorder and attention deficit/hyperactivity disorder covering a period of time of about 1.5 years comprising initial psychological/psychiatric assessment, subsequent day clinic/outpatient treatment (amongst others including off-label use of melatonin and methylphenidate as well as parent-child interaction therapy) and follow-up assessment. Follow-up results indicated good efficacy of melatonin and methylphenidate medication without any adverse effects. Multidisciplinarity in diagnosis and treatment are mandatory to meet needs of patients with complex genetic disorders like 1p36 deletion syndrome. Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome if behavioral interventions are not sufficient. Full article
13 pages, 354 KiB  
Case Report
Psychiatric Disorders and Distal 21q Deletion—A Case Report
by Wolfgang Briegel and Juliane Hoyer
Int. J. Environ. Res. Public Health 2020, 17(9), 3096; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph17093096 - 29 Apr 2020
Cited by 2 | Viewed by 2240
Abstract
Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic features including heart defects, high or cleft palate, brain malformations (e.g., cerebral atrophy), developmental delay and intellectual disability. So far, there is very limited knowledge about psychiatric disorders [...] Read more.
Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic features including heart defects, high or cleft palate, brain malformations (e.g., cerebral atrophy), developmental delay and intellectual disability. So far, there is very limited knowledge about psychiatric disorders and their effective treatment in this special population. To fill this gap, the authors present the case of an initially five-year-old girl with distal deletion (del21q22.2) and comorbid oppositional defiant disorder (main psychiatric diagnosis) covering a period of time of almost four years comprising initial psychological/psychiatric assessment, subsequent treatment with Parent–Child Interaction Therapy (PCIT), and follow-up assessments. Post-intervention results including a 19-month follow-up indicated good overall efficacy of PCIT and high parental satisfaction with the treatment. This case report makes a substantial contribution to enhancing knowledge on psychiatric comorbidity and its effective treatment in patients with terminal 21q deletion. Moreover, it emphasizes the necessity of multidisciplinarity in diagnosis and treatment due to the variety of anomalies associated with 21q deletion. Regular screenings for psychiatric disorders and (if indicated) thorough psychological and psychiatric assessment seem to be reasonable in most affected children, as children with developmental delays are at increased risk of developing psychiatric disorders. As demonstrated with this case report, PCIT seems to be a good choice to effectively reduce disruptive behaviors in young children with partial deletion of chromosome 21q. Full article
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