Article
Psychiatry
Annemiek M. Landlust, Linda Visser, Boudien C. T. Flapper, Selma A. J. Ruiter, Renee J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom
Summary: Our study describes a structured multidisciplinary method of assessment for individuals with PMS, combining direct in-person neurodevelopmental assessments with assessment of contextual factors. The results show variability in behavior, symptom expression, and severity in individuals with PMS, highlighting the importance of considering the individual's cognitive and adaptive development and the genetic context when interpreting behavioral data. The study also suggests that combining questionnaires with direct in-person assessments provides a more accurate method for interpreting findings and understanding behavior in rare genetic disorders associated with developmental delay such as PMS.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Genetics & Heredity
Julian Nevado, Sixto Garcia-Minaur, Maria Palomares-Bralo, Elena Vallespin, Encarna Guillen-Navarro, Jordi Rosell, Cristina Bel-Fenellos, Maria Angeles Mori, Montserrat Mila, Miguel del Campo, Pilar Barruz, Fernando Santos-Simarro, Gabriela Obregon, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galan, Juan C. Cigudosa, Angelica Moresco, Cesar Saleme, Silvia Castillo, Elisabeth Gabau, Luis Perez-Jurado, Ana Barcia, Maria Soledad Martin, Elena Mansilla, Isabel Vallcorba, Pedro Garcia-Murillo, Franco Cammarata-Scalisi, Natalya Goncalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Veronica Adriana Seidel, Pilar Tirado, Pablo Lapunzina
Summary: This study describes a cohort of 210 patients with genetically confirmed Phelan-McDermid syndrome (PMS) and identifies multiple variant types, including small deletions and SHANK3 sequence variants. The findings suggest that SHANK3 plays an important role in PMS, but is probably not solely responsible for all the spectrum features.
FRONTIERS IN GENETICS
(2022)
Article
Pediatrics
Liang Chen, Zhi-ye Yao, Xiangtao Wu, Shao-ru He, Yu-mei Liu, Xue-yan Wang, De-zhi Cao, Xing-kun Yang, Jian-bo Zhao, Zi Ren, Hong Li, Zheng Pei, Hong-ke Ding, Zhi-chun Feng
Summary: This study evaluated ten Chinese pediatric patients with Phelan-McDermid syndrome (PMS) and found novel mutations in all patients. Three patients had mutations or deletions in the SHANK3 gene. The findings of this study provide a reference for clinical research and PMS diagnosis.
FRONTIERS IN PEDIATRICS
(2022)
Letter
Genetics & Heredity
Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny van Ravenswaaij-Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett, Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron
Summary: Phelan-McDermid syndrome, initially known as 22q13 deletion syndrome, is now recognized to be associated with SHANK3 gene. To reduce confusion, a simple classification system has been proposed, dividing PMS into PMS-SHANK3 related and PMS-SHANK3 unrelated cases.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Pediatrics
Cristina Garcia-Bravo, Rosa Ma Martinez-Piedrola, Sara Garcia-Bravo, Ma Pilar Rodriguez-Perez, Ana San Martin-Gomez, Gemma Fernandez-Gomez, Domingo Palacios-Cena
Summary: This study aimed to describe the experiences of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or convulsions, and to explore their impact on daily life. Data was collected through in-depth interviews and analyzed thematically. Four themes were identified: the first epileptic seizure, living with seizures, treatment of epileptic seizures, and the impact of epilepsy on the family. The study concludes that programs should be developed to facilitate discussion between parents and professionals regarding treatment decisions and provide coping strategies for managing epilepsy and seizures.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Review
Genetics & Heredity
Megan D. McCoy, Sara M. Sarasua, Jane M. DeLuca, Stephanie Davis, Katy Phelan, Roger Curtis Rogers, Luigi Boccuto
Summary: PMS patients have a high prevalence of kidney disorders, and this study identified genomic regions associated with kidney disorders in PMS. The study proposed candidate genes UPK3A, FBLN1, WNT7B, and CELSR1 within these regions as potential contributors to renal disorders in PMS.
Editorial Material
Genetics & Heredity
Luigi Boccuto, Andrew Mitz, Ludovico Abenavoli, Sara M. Sarasua, William Bennett, Curtis Rogers, Barbara DuPont, Katy Phelan
Summary: Phelan-McDermid syndrome is a multi-systemic disorder characterized by genetic and phenotypic variability. It presents with a wide range of clinical features including intellectual disability, developmental delay, and minor dysmorphic facial features. The syndrome can be caused by genetic abnormalities affecting the SHANK3 gene or chromosomal rearrangements in the 22q13 region. Environmental factors and variations in specific genes can also contribute to the variability in clinical presentation.
Article
Genetics & Heredity
Marie S. Smith, Sara M. Sarasua, Curtis Rogers, Katy Phelan, Luigi Boccuto
Summary: This study investigated the prevalence of lymphedema in Phelan-McDermid syndrome (PMS) patients and found a higher incidence rate in patients with 22q13.3 deletions associated with PMS. Patients in their teens or adulthood and those with deletions >4Mb were more likely to have lymphedema.
Article
Genetics & Heredity
Snehal Shah, Sara M. Sarasua, Luigi Boccuto, Brian C. Dean, Liangjiang Wang
Summary: Phelan-McDermid syndrome is a rare genetic neurodevelopmental disorder caused by 22q13 region deletions or SHANK3 gene variants. Candidate genes related to PMS have been identified through genomic data mining, providing insights into disease mechanisms and potential therapeutic targets.
Article
Genetics & Heredity
Lavanya Jain, Lindsay M. Oberman, Laura Beamer, Lauren Cascio, Melanie May, Sujata Srikanth, Cindy Skinner, Kelly Jones, Bridgette Allen, Curtis Rogers, Katy Phelan, Walter E. Kaufmann, Barbara DuPont, Sara M. Sarasua, Luigi Boccuto
Summary: This study investigated the prevalence of seizures and their association with genetic and metabolic features in Phelan-McDermid syndrome (PMS) patients. Results showed that individuals with pathogenic SHANK3 mutations had the highest prevalence of seizures, and the gene TBC1D22A in the 22q13.31 region was significantly associated with seizure prevalence. Additionally, a distinct metabolic profile was identified for PMS patients with seizures, indicating a disrupted utilization of main energy sources.
Review
Genetics & Heredity
Ying Hao, Yang Liu, Jingxin Yang, Xingping Li, Fuwei Luo, Qian Geng, Suli Li, Peining Li, Weiqing Wu, Jiansheng Xie
Summary: Phelan-McDermid syndrome (PMS) is a rare developmental disorder characterized by hypotonia, developmental delay, intellectual disability, autism spectrum disorder, and other features. This study summarized the laboratory findings, genetic defects, and genotype-phenotype correlations for Chinese patients with PMS.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Sara M. Sarasua, Jane M. DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E. Powder, Katherine Weisensee, Luigi Boccuto
Summary: Phelan-McDermid syndrome (PMS) is a multisystem disorder associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene. This study investigates the relationship between head size and genes on chromosome 22q13 and identifies a genomic region significantly associated with macrocephaly, providing insight into head and brain development.
Article
Genetics & Heredity
Bridgette A. A. Moffitt, Lindsay M. M. Oberman, Laura Beamer, Sujata Srikanth, Lavanya Jain, Lauren Cascio, Kelly Jones, Rini Pauly, Melanie May, Cindy Skinner, Caroline Buchanan, Barbara R. R. DuPont, Walter E. E. Kaufmann, Kathleen Valentine, Linda D. D. Ward, Diana Ivankovic, R. Curtis Rogers, Katy Phelan, Sara M. M. Sarasua, Luigi Boccuto
Summary: This study investigated the prevalence of sleep disturbances in individuals with Phelan-McDermid Syndrome (PMS) and examined the genetic and metabolic features associated with them. The results showed that sleep disturbances were present in 64.3% of PMS patients, with the most common problem being waking during the night. Individuals with a SHANK3 pathogenic variant had a higher prevalence of sleep disturbances compared to those with 22q13.3 deletions. Distinct metabolic profiles for PMS patients with and without sleep disturbances were also identified.
Article
Pediatrics
Rui Jin Xie, Tian Xiao Li, Chenyu Sun, Ce Cheng, Jinlin Zhao, Hua Xu, Yueying Liu
Summary: A case study of a 21-month-old Chinese girl with PMS showed improvement in motor skills and social behaviors after rhGH treatment, suggesting its potential as an alternative therapy for PMS. Further clinical trials are needed to confirm the effectiveness of rhGH therapy.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Genetics & Heredity
Bridgette A. Moffitt, Sara M. Sarasua, Linda Ward, Diana Ivankovic, Kathleen Valentine, Curtis Rogers, Katy Phelan, Luigi Boccuto
Summary: This study aimed to identify and quantify specific sleep disturbances in individuals with PMS. The results showed that 73.4% of PMS patients have sleep disturbances, and the prevalence increases with age.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)