Article
Oncology
Natalie A. Pride, Kristina M. Haebich, Karin S. Walsh, Francesca Lami, Melissa Rouel, Alice Maier, Anita K. Chisholm, Jennifer Lorenzo, Stephen J. C. Hearps, Kathryn N. North, Jonathan M. Payne
Summary: Difficulties in sensory processing are common in neurodevelopmental disorders and can significantly impact a child's functioning. This study aimed to explore sensory processing in children with NF1 and found that 61% of them showed differences in how they respond to sensory stimuli compared to typically developing children. These difficulties were associated with other neurodevelopmental issues and highlight the need for accommodations and support.
Article
Pediatrics
Peter L. Stavinoha, Cody Solesbee, Susan M. Swearer, Steven Svoboda, Laura J. Klesse, Alice Ann Holland
Summary: Children with NF1 are at increased risk for academic, social, and psychological difficulties, with ADHD symptoms identified as a significant risk factor for bullying victimization in this population. Further research is needed to explore potential risk factors for social victimization in children with NF1.
Article
Pediatrics
Binnaz Celik, Ozlem Yuksel Aksoy, Funda Bastug, Hatice Gamze Poyrazoglu
Summary: Patients with NF1 commonly exhibit impaired renal function, hypertension, and urinary tract anomalies compared to healthy controls. Regular monitoring of blood pressure and evaluation of kidney function are crucial for NF1 patients.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Clinical Neurology
Marie Vernet, Marianne Jover, Stephanie Bellocchi, Stephanie Maziero, Melanie Jucla, Jessica Tallet, Jeremy Danna, Yves Chaix, Stephanie Ducrot
Summary: This study found that visual-processing deficits play an important role in reading disabilities in children with Neurofibromatosis type 1 (NF1). Visual-processing deficits are highly prevalent in NF1 children and are associated with an increased risk of reading disabilities. This study has important clinical implications for the early detection and management of reading disabilities in NF1 children.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Psychology, Developmental
Jonathan M. Payne, Kristina M. Haebich, Rachel MacKenzie, Karin S. Walsh, Stephen J. C. Hearps, David Coghill, Belinda Barton, Natalie A. Pride, Nicole J. Ullrich, James H. Tonsgard, David Viskochil, Elizabeth K. Schorry, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Mark A. Bellgrove, Kathryn N. North
Summary: This study revealed significant deficits in all outcome variables among children with NF1. Cognitive variables did not predict ADHD symptoms, but elevated ADHD symptoms significantly impacted functional outcomes. Interventions aimed at reducing ADHD symptoms in NF1 are essential for improving daily functioning.
JOURNAL OF ATTENTION DISORDERS
(2021)
Article
Surgery
Laura-Nanna Lohkamp, Patricia Parkin, Allan Puran, Ute Katharina Bartels, Eric Bouffet, Uri Tabori, James Thomas Rutka
Summary: The care of children with NF1 and OPG is optimized with a multidisciplinary team approach, coordinated by a central specialty clinic.
FRONTIERS IN SURGERY
(2022)
Article
Medicine, General & Internal
Shengxin Liu, Tyra Lagerberg, Jonas F. Ludvigsson, Mark J. Taylor, Zheng Chang, Brian M. D'Onofrio, Henrik Larsson, Paul Lichtenstein, Soffia Gudbjornsdottir, Ralf Kuja-Halkola, Agnieszka Butwicka
Summary: This cohort study examined the trends and patterns of psychotropic medication dispensation among children and adolescents with type 1 diabetes (T1D) in Sweden from 2006 to 2019. The study found an increasing trend in psychotropic medication dispensation, which was consistently higher than those without T1D. These findings highlight the importance of further investigations into the benefits and risks of psychotropic medications in this population, as well as the integration of pediatric diabetes care and mental health care.
Article
Oncology
Katharina Wagener, Julia Beckhaus, Svenja Boekhoff, Carsten Friedrich, Hermann L. Mueller
Summary: This study aimed to explore the clinical and epidemiological characteristics of pediatric meningioma. The results showed that pediatric meningioma differs from adult meningioma in its clinical characteristics, and different WHO grades have an impact on event-free survival.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Clinical Neurology
Michael J. Fisher, David T. W. Jones, Yimei M. Li, Xiaofan Guo, Poonam S. Sonawane, Angela J. Waanders, Joanna J. Phillips, William A. Weiss, Adam C. Resnick, Sara Gosline, Jineta Banerjee, Justin Guinney, Astrid Gnekow, Daniela Kandels, Nicholas K. Foreman, Andrey Korshunov, Marina Ryzhova, Luca Massimi, Sri Gururangan, Mark W. Kieran, Zhihong Wang, Maryam Fouladi, Mariko Sato, Ingrid Ora, Stefan Holm, Stephen J. Markham, Pengbo Beck, Natalie Jaeger, Andrea Wittmann, Alexander C. Sommerkamp, Felix Sahm, Stefan M. Pfister, David H. Gutmann
Summary: Low-grade gliomas (LGGs) are the most common childhood brain tumor in the general population and in individuals with the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. While most NF1-associated LGGs have bi-allelic NF1 inactivation as the main genetic abnormality, some tumors also harbor additional mutations, with FGFR1 mutation being the most common secondary alteration. This comprehensive characterization has important implications for the management of children with NF1-LGG, distinct from their sporadic counterparts.
ACTA NEUROPATHOLOGICA
(2021)
Article
Genetics & Heredity
Arnaud Roy, Jean-Luc Roulin, Christele Gras-Le Guen, Marie-Laure Corbat, Sebastien Barbarot
Summary: In children with NF1, executive function difficulties were found to significantly predict impaired quality of life, particularly in domains related to social support and school environment. This suggests that addressing executive function issues may be crucial in managing the disease and improving overall quality of life for these children.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Medicine, General & Internal
Elena Tarca, Elena Cojocaru, Laura Mihaela Trandafir, Alina Costina Luca, Alina Sinziana Melinte Popescu, Lacramioara Ionela Butnariu, Marian George Popescu, Dana Teodora Anton Paduraru, Mihaela Moscalu, Daniela Rusu, Viorel Tarca
Summary: Neurofibromatosis type 1 is a genetic disease associated with the NF1 tumor suppressor gene, predisposing affected individuals to a range of tumors. This article presents a very rare case of NF1 and bladder ganglioneuroma in a sixteen-year-old patient.
Article
Oncology
Chelsea Kotch, Robert Avery, Kelly D. Getz, Eric Bouffet, Peter de Blank, Robert Listernick, David H. Gutmann, Miriam Bornhorst, Cynthia Campen, Grant T. Liu, Richard Aplenc, Yimei Li, Michael J. Fisher
Summary: This study aimed to investigate the risk factors for treatment refractoriness/relapse and poor visual outcomes in children with NF1-OPG. It was found that younger age at initial treatment, posterior tumor location, and familial inheritance were associated with refractory/relapsed NF1-OPG. Patients with moderate to severe vision loss were more likely to have posterior tumor location, optic disc abnormalities, or abnormal visual acuity at initial treatment.
Article
Medicine, General & Internal
Shengxin Liu, Jonas F. Ludvigsson, Paul Lichtenstein, Soffia Gudbjornsdottir, Mark J. Taylor, Henrik Larsson, Ralf Kuja-Halkola, Agnieszka Butwicka
Summary: This study aims to investigate educational outcomes in children and adolescents with type 1 diabetes (T1D) with and without psychiatric disorders. The findings suggest that while children with T1D alone have minor difficulties with their educational outcomes, those with both T1D and psychiatric disorders experience universal long-term educational underachievement.
Article
Medicine, Research & Experimental
Victoria Idowu, Julie Christensen, Andrea M. Gross, Eva Dombi, Jennifer R. Miles, Kelly King, Jennifer Chisholm, Christopher Zalewski, Andrea Baldwin, Patricia Whitcomb, Crystal Burgess, Brigitte C. Widemann, Carmen C. Brewer, Hung Jeffrey Kim
Summary: This study investigated otologic and audiologic manifestations in patients with NF1 and found that the majority of patients had normal hearing sensitivity and middle ear function. However, conductive hearing loss was more common in patients with ear-related plexiform neurofibromas. These findings suggest the importance of addressing hearing concerns and implementing audiological monitoring in NF1 patients.
Article
Psychology, Developmental
Anita K. Chisholm, Francesca Lami, Kristina M. Haebich, Alex Ure, Amanda Brignell, Tiba Maloof, Natalie A. Pride, Karin S. Walsh, Alice Maier, Melissa Rouel, Yael Granader, Belinda Barton, Hayley Darke, Ian Fuelscher, Gabriel Dabscheck, Vicki A. Anderson, Katrina Williams, Kathryn N. North, Jonathan M. Payne
Summary: This study investigated sex and age differences in autistic behaviors in children with NF1. Males exhibited greater social communication deficits compared to females, and age-related improvement of social communication difficulties was observed in males but not females. No sex differences were found for restricted/repetitive behaviors, which were stable over time for both males and females.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Developmental Biology
Malou M. P. G. Noten, Kristiaan B. van der Heijden, Stephan C. J. Huijbregts, Stephanie H. M. van Goozen, Hanna Swaab
DEVELOPMENTAL PSYCHOBIOLOGY
(2020)
Article
Developmental Biology
Malou M. P. G. Noten, Kristiaan B. Van der Heijden, Stephan C. J. Huijbregts, Stephanie H. M. Van Goozen, Hanna Swaab
DEVELOPMENTAL PSYCHOBIOLOGY
(2020)
Article
Genetics & Heredity
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jorgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2019)
Article
Clinical Neurology
Dide S. Van Adrichem, Stephan C. J. Huijbregts, Kristiaan B. Van der Heijden, Stephanie H. M. Van Goozen, Hanna Swaab
CHILD NEUROPSYCHOLOGY
(2020)
Editorial Material
Clinical Neurology
Stephan Huijbregts
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2020)
Review
Genetics & Heredity
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Gizewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2020)
Correction
Genetics & Heredity
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Gizewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2020)
Article
Psychology, Developmental
Dide S. van Adrichem, Stephan C. J. Huijbregts, Kristiaan B. Van der Heijden, Stephanie H. M. van Goozen, Hanna Swaab
SOCIAL DEVELOPMENT
(2020)
Article
Criminology & Penology
N. Bouw, S. C. J. Huijbregts, E. Scholte, H. Swaab
INTERNATIONAL JOURNAL OF OFFENDER THERAPY AND COMPARATIVE CRIMINOLOGY
(2019)
Article
Psychology, Developmental
Dide S. van Adrichem, Stephan C. J. Huijbregts, Kristiaan B. Van der Heijden, Stephanie H. M. van Goozen, Hanna Swaab
Article
Psychology, Developmental
M. M. P. G. Noten, K. B. Van der Heijden, S. C. J. Huijbregts, S. H. M. Van Goozen, H. Swaab
JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
(2019)
Article
Psychology, Developmental
M. M. P. G. Noten, K. B. van der Heijden, S. C. J. Huijbregts, N. Bouw, S. H. M. van Goozen, H. Swaab
INFANT BEHAVIOR & DEVELOPMENT
(2019)
Article
Criminology & Penology
Evelien Platje, Stephan C. J. Huijbregts, Stephanie H. M. van Goozen, Arne Popma, Maaike Cima, Hanna J. T. Swaab
INTERNATIONAL JOURNAL OF OFFENDER THERAPY AND COMPARATIVE CRIMINOLOGY
(2018)
Article
Psychology, Multidisciplinary
Dide S. van Adrichem, Stephan C. J. Huijbregts, Kristiaan B. van der Heijden, Stephanie H. M. van Goozen, Hanna Swaab
FRONTIERS IN PSYCHOLOGY
(2020)
Article
Psychology, Clinical
J. Suurland, K. B. van der Heijden, S. C. J. Huijbregts, S. H. M. van Goozen, H. Swaab
JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
(2018)