Article
Medicine, General & Internal
Meritxell Fernandez-Lafitte, Jesus Cobo, Ramon Coronas, Isabel Parra, Joan Carles Oliva, Aida alvarez, Susanna Esteba-Castillo, Olga Gimenez-Palop, Diego J. Palao, Assumpta Caixas
Summary: This study explored symptoms of autism spectrum disorder (ASD) in adults with Prader-Willi syndrome (PWS), focusing on their psychosocial functionality. The results showed that impaired social responsiveness was common in participants with PWS and had a significant impact on their overall functionality, particularly in social and personal relationships. The study highlights the importance of assessing social skills in psychosocial evaluations of PWS patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Psychology, Developmental
Emma K. Baker, Sheena Arora, David J. Amor, Perrin Date, Meagan Cross, James O'Brien, Chloe Simons, Carolyn Rogers, Stephen Goodall, Jennie Slee, Chris Cahir, David E. Godler
Summary: This study compared the costs associated with raising a child with four rare disorders (Prader-Willi, Angelman, Chromosome 15q Duplication, and fragile X syndromes) and examined the relationship between these costs and clinical severity. The study found that intellectual functioning negatively predicted total costs, and the impact of intellectual functioning on total costs was significantly different in individuals with Angelman syndrome compared to other syndromes.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Medicine, General & Internal
David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael J. Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy D. Skinner, Angelica M. Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor
Summary: The findings of this study suggest that screening for all chromosome 15 imprinting disorders using SNRPN methylation analysis is feasible, with 5 individuals identified out of 16,579 infants screened.
Article
Genetics & Heredity
Kaihui Zhang, Shu Liu, Wenjun Gu, Yuqiang Lv, Haihua Yu, Min Gao, Dong Wang, Jianyuan Zhao, Xiaoying Li, Zhongtao Gai, Shimin Zhao, Yi Liu, Yiyuan Yuan
Summary: Prader-Willi syndrome (PWS) is a complex genetic syndrome caused by the loss of function of genes in 15q11-q13, leading to symptoms such as hypotonia, obesity, and intellectual disability. However, it overlaps clinically with other disorders, requiring accurate differential diagnosis.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Anna Sjostrom, Karlijn Pellikaan, Henrik Sjostrom, Anthony P. Goldstone, Graziano Grugni, Antonino Crino, Laura C. G. De Graaff, Charlotte Hoybye
Summary: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder characterized by hyperprolactinemia, especially in patients with maternal uniparental disomy (mUPD) who are often treated with antipsychotic medications. Severe hyperprolactinemia is rare in PWS patients, with most cases related to medication, highlighting the importance of monitoring prolactin levels in adults with PWS, especially those on antipsychotic treatment.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Ranim Mahmoud, Virginia Kimonis, Merlin G. Butler
Summary: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by genetic abnormalities. The most common defect is a deletion of genetic material on chromosome 15. PWS is characterized by hyperphagia and food-seeking behavior, leading to obesity and associated health issues. Currently, there are no approved treatments for PWS, but various clinical trials are investigating potential therapeutic agents.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Charlotte Hoybye, Maithe Tauber
Summary: Prader-Willi syndrome is a rare genetic disorder characterized by low muscle tone, short stature, hypogonadism, and eating disorders. Patients may experience intellectual disability and emotional regulation difficulties. Obesity and its complications are major concerns in this condition.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Education, Special
J. Wieting, C. Eberlein, S. Bleich, H. Frieling, M. Deest
Summary: The study found that the COVID-19 pandemic has significantly impacted the mental health of individuals with PWS, resulting in increased behavioral issues, with individuals living in families being particularly vulnerable and in need of special support.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Cees Noordam, Charlotte Hoybye, Urs Eiholzer
Summary: Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by features such as intellectual disability, behavioral problems, hypothalamic dysfunction, and specific dysmorphisms. Hypogonadism is prevalent in both males and females with PWS, but limited knowledge exists about this condition. This review outlines the current understanding of hypogonadism in PWS, including clinical, biochemical, genetic, and histological features, as well as treatment options and expert recommendations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Laura Blanco-Hinojo, Laia Casamitjana, Jesus Pujol, Gerard Martinez-Vilavella, Susanna Esteba-Castillo, Olga Gimenez-Palop, Valentin Freijo, Joan Deus, Assumpta Caixas
Summary: The motor system in PWS patients mainly involves neural elements typically associated with motor processing during motor challenge tasks; although there were no significant differences between groups in the simplest task, patients showed weaker activation in the cerebellum during more complex tasks; furthermore, significant interaction between group and correlation pattern with measures of motor function was observed.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Jesus Cobo, Ramon Coronas, Esther Pousa, Joan-Carles Oliva, Olga Gimenez-Palop, Susanna Esteba-Castillo, Ramon Novell, Diego J. Palao, Assumpta Caixas
Summary: The study found that patients with Prader-Willi Syndrome (PWS) had good awareness of the illness and medication effects, but lacked awareness of the social consequences of the disease. They were well aware of obesity/overweight and excessive appetite, but only mildly aware of excessive food intake. Insight was correlated with age and functionality, but not with BMI. PWS patients showed better insight into the illness compared to schizophrenia-spectrum patients, but similar awareness of medication effects and social consequences.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Lionne N. Grootjen, Nathalie E. M. Uyl, Inge A. L. P. van Beijsterveldt, Layla Damen, Gerthe F. Kerkhof, Anita C. S. Hokken-Koelega
Summary: The study compared the perinatal and neonatal features of infants with Prader-Willi syndrome (PWS) to healthy infants, identifying significant differences in variables such as maternal age, birth weight, and prevalence of certain conditions. Early diagnosis is crucial for multidisciplinary treatment of PWS patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Medicine, General & Internal
Marta Ramon-Krauel, Montse Amat-Bou, Mercedes Serrano, Antonio F. Martinez-Monseny, Carles Lerin
Summary: The gut microbiome plays an important role in Prader-Willi syndrome, with probiotic supplementation potentially improving metabolic and mental health aspects. Further research is needed to ensure the safety and efficacy of targeting the gut microbiome in individuals with Prader-Willi syndrome.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Merlin G. Butler, Waheeda A. Hossain, Neil Cowen, Anish Bhatnagar
Summary: A high-resolution chromosome microarray analysis was conducted on 154 individuals with Prader-Willi syndrome (PWS) enrolled in the DESTINY PWS clinical trial. The analysis revealed that 56.5% of the participants had the typical 15q11-q13 deletion subtypes, 40.3% had non-deletion maternal disomy 15, and 3.2% had unexpected microarray findings. The study provides valuable insights into the frequencies and types of genetic defects in individuals with PWS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Nutrition & Dietetics
Eva Erhardt, Denes Molnar
Summary: Prader-Willi syndrome is a complex genetic disorder that affects endocrine and neurologic systems, metabolism, and behavior. Current research focuses on dietary management and treatment to prevent excessive weight gain.
Review
Psychology, Developmental
Tamara Diendorfer, Louise Seidl, Marija Mitic, Gloria Mittmann, Kate Woodcock, Beate Schrank
Summary: Social connectedness is crucial for the positive development of children and early adolescents, but those with mental disorders often experience difficulties in social connectivity. Research shows that social connectedness is significantly reduced in this population, with determinants including skills, behavior, social aspects, and symptoms.
DEVELOPMENTAL REVIEW
(2021)
Article
Family Studies
Gloria Mittmann, Kate Woodcock, Sylvia Doerfler, Ina Krammer, Isabella Pollak, Beate Schrank
Summary: The study found that despite some online-specific aggression, OCTs are perceived as beneficial for friendships. Early adolescents use online spaces naturally and differentiate little between online and offline communication. Only when it comes to high levels of intimacy, early adolescents also need an offline setting to fulfill their communication need.
JOURNAL OF EARLY ADOLESCENCE
(2022)
Article
Multidisciplinary Sciences
Justin Cheuk Yin Chung, Carmel Mevorach, Kate Anne Woodcock
Summary: Emotional outbursts are challenging behaviors commonly experienced by individuals with neurodevelopmental disorders and childhood adversity. The potential pathways of emotional outbursts may be influenced by contextual factors, differences in sensory processing, masking of emotions in unsafe environments, and differences in safety perception.
SCIENTIFIC REPORTS
(2022)
Review
Clinical Neurology
Andrea T. Thomas, Jane Waite, Caitlin A. Williams, Jeremy Kirk, Chris Oliver, Caroline Richards
Summary: This meta-analysis provides a comprehensive review of clinical features, behavioral, psychological, cognitive, and physical characteristics, conditions, and comorbidities in CHARGE syndrome, laying an empirically based foundation for further research and practice.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Review
Health Care Sciences & Services
Sally Reynard, Joao Dias, Marija Mitic, Beate Schrank, Kate Anne Woodcock
Summary: Digital interventions can help children and early adolescents improve their emotion regulation skills, particularly with the use of digital games which effectively reduce negative emotional experience. Feasibility issues were more prominent among diagnosed youth, while acceptability was generally high across different intervention types and samples. However, further research is needed in this area.
JMIR SERIOUS GAMES
(2022)
Article
Psychology, Developmental
Justin Cheuk Yin Chung, Rosane Lowenthal, Carmel Mevorach, Cristiane Silvestre Paula, Maria Cristina Triguero Veloz Teixeira, Kate Anne Woodcock
Summary: This study examined the heterogeneous causal relationship between emotional outbursts and emotion dysregulation, and found cultural differences in this relationship. The study found that the Brazilian responses and the English responses could be classified into similar clusters.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Experimental
Justin Cheuk Yin Chung, Raj Seraya Bhatoa, Ruth Kirkpatrick, Kate Anne Woodcock
Summary: This study analyzed ultimatum game data in children and adolescents and found that responder behavior is related to a dual systems framework. However, there is no consistent relationship between responder behavior and emotion regulation traits. Choice history was found to influence all measures of responder behavior in the game.
Article
Psychology, Educational
Katharina A. M. Stiehl, Ina Krammer, Beate Schrank, Isabella Pollak, Giorgia Silani, Kate. A. A. Woodcock
Summary: This qualitative study aimed to understand children's fears and coping strategies during the transition from primary to secondary school. The study found four types of fears among students: peer victimization, being alone, victimization by authority figures, and academic failure. The strategies they used to cope with these fears included building supportive networks, personal emotion regulation, and controlling behavior. Overall, students reported more social fears than academic fears.
SOCIAL PSYCHOLOGY OF EDUCATION
(2023)
Review
Psychology, Developmental
Isabella Pollak, Marija Mitic, James Birchwood, Sylvia Dorfler, Ina Krammer, Jack C. Rogers, Esther Judith Schek, Beate Schrank, Katharina A. M. Stiehl, Kate Anne Woodcock
Summary: Children's peer relationships are crucial for their social-emotional development and health. This systematic review identified effective strategies for facilitating peer relationships among 8-14-year-olds. Prevention programs and interventions for typically developing children focused on mental wellbeing and self-concepts, while clinical interventions targeted social-emotional skills, symptoms, and peer behaviors.
ADOLESCENT RESEARCH REVIEW
(2022)
Article
Psychology, Educational
Ina Krammer, Beate Schrank, Isabella Pollak, Katharina A. M. Stiehl, Urs M. Nater, Kate A. Woodcock
Summary: Supportive peer relationships are crucial for mental health and well-being, especially during the transition from primary school to secondary school. However, there is a lack of innovative approaches in studying friendship development and involving early adolescents in research. In this study, we used participatory research methods to understand the factors that facilitate or hinder friendship development during school transition. Our findings revealed that early adolescents value kind peers who provide safety, support, empathy, conflict management, avoidance of negative behavior, companionship, and communication in both offline and online environments. Friendship jealousy and tolerating larger friendship groups were identified as important barriers.
JOURNAL OF SCHOOL PSYCHOLOGY
(2023)
Review
Health Care Sciences & Services
Gloria Mittmann, Vanessa Zehetner, Stefanie Hoehl, Beate Schrank, Adam Barnard, Kate Woodcock
Summary: This scoping review explores the range and characteristics of augmented reality (AR) applications that improve social skills. The findings reveal that most applications are designed for children with autism, focusing on teaching the ability to recognize facial expressions. However, there are also diverse applications targeting the general population, including both children and adults, with a range of outcome goals.
JMIR SERIOUS GAMES
(2023)
Article
Psychology, Developmental
Lauren Shelley, Jane Waite, Joanne Tarver, Chris Oliver, Hayley Crawford, Caroline Richards, Stacey Bissell
Summary: SATB2-associated syndrome (SAS) is a genetic syndrome characterized by intellectual disability, severe speech delay, and palatal and dental problems. This study explores the correlates of self-injury, aggression, and property destruction in individuals with SAS. It found that there are specific individual characteristics associated with each behavior, emphasizing the importance of specificity when studying challenging behaviors. Understanding these correlates has important implications for behavioral interventions in SAS.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Social Sciences, Interdisciplinary
Isabella Pollak, Katharina A. M. Stiehl, Beate Schrank, James Birchwood, Ina Krammer, Marija Mitic, Jack C. Rogers, Kate A. Woodcock
Summary: Stakeholder involvement in intervention development is crucial for successful implementation. However, there are difficulties in implementing appropriate participatory methods to engage children and collect relevant information. This paper discusses the suitability of four creative qualitative methods and compares their effectiveness in generating relevant information for early intervention development.
INTERNATIONAL JOURNAL OF QUALITATIVE METHODS
(2023)
Article
Education, Special
E. Pearson, E. Nielsen, S. Kita, L. Groves, L. Nelson, J. Moss, C. Oliver
Summary: The study found that individuals with CdLS use gestures more frequently compared to DS and TD groups, indicating a unique feature in expressive communication for CdLS individuals even with impaired spoken language.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2021)
Review
Education, Special
C. Eaton, J. Tarver, A. Shirazi, E. Pearson, L. Walker, M. Bird, C. Oliver, J. Waite
Summary: Assessing depression in individuals with severe to profound intellectual disability is challenging due to the inability to report internal states, but behaviors captured by standard diagnostic schemes show a relationship with depression. Challenging behaviors are associated with depression, suggesting caution in labeling them as 'depressive equivalents' without controlling for potential confounds and bias.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2021)