The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey.

Authors: Jarvis, John¹ (AUTHOR) john.jarvis@medicuseconomics.com, Chertavian, Elizabeth¹ (AUTHOR), Buessing, Marric¹ (AUTHOR), Renteria, Taylor¹ (AUTHOR), Tu, Lufei¹ (AUTHOR), Hoffer, Lauren² (AUTHOR), Fischer, Ryan² (AUTHOR), Moore, Amanda³ (AUTHOR), Cross, Meagan⁴ (AUTHOR), Tones, Megan⁵ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/21/2025, Vol. 20 Issue 1, p1-10. 10p.

Subject Terms: *ECONOMIC impact, *ANGELMAN syndrome, *MEDICAL care costs, *SERVICES for caregivers, *QUALITY of life, *CAREGIVER education, *COST of living

Geographic Terms: UNITED States

Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study.

Authors: Suleja, Agata^1,2 (AUTHOR), Milska-Musa, Katarzyna³ (AUTHOR), Przysło, Łukasz⁴ (AUTHOR), Bednarczyk, Marzena^2,5 (AUTHOR), Kostecki, Marcin² (AUTHOR), Cysewski, Dominik^2,6 (AUTHOR), Matryba, Paweł⁷ (AUTHOR), Rozensztrauch, Anna^8,9 (AUTHOR), Dwornik, Michał¹⁰ (AUTHOR), Opacki, Marcin¹¹ (AUTHOR), Śmigiel, Robert^9,12 (AUTHOR) robert.smigiel@umw.edu.pl, Łukasiewicz, Kacper^2,13,14 (AUTHOR) kacper.lukasiewicz@umb.edu.pl

Source: Orphanet Journal of Rare Diseases. 8/22/2024, Vol. 19 Issue 1, p1-13. 13p.

Subject Terms: *PSYCHOMOTOR disorders, *ANGELMAN syndrome, *CAREGIVERS, *SPEECH disorders, *POLISH people

¹H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome.

Authors: Gupta, Pooja Kri¹ (AUTHOR), Barak, Sharon² (AUTHOR), Feuermann, Yonatan¹ (AUTHOR), Goobes, Gil² (AUTHOR), Kaphzan, Hanoch¹ (AUTHOR) hkaphzan@univ.haifa.ac.il

Source: Molecular Autism. 7/24/2024, Vol. 15 Issue 1, p1-14. 14p.

Subject Terms: *ANGELMAN syndrome, *PROTON magnetic resonance, *METABOLOMICS, *LABORATORY mice, *METABOLOMIC fingerprinting

Colin Farrell: 'I Just Think He's Magic'.

Authors: JORDAN, JULIE (AUTHOR)

Source: People. 8/19/2024, Vol. 102 Issue 7, p30-35. 6p. 12 Color Photographs.

Subjects: YOUNG adults, LEARNING curve, ANGELMAN syndrome, PARENTS, MOTHERS, BEACHES

The Type, Severity, and Impact of Sleep Problems in Children With Angelman Syndrome and Parental Help-seeking Patterns.

Authors: McLay, Laurie K.¹ laurie.mclay@canterbury.ac.nz, Hansen, Sarah G.², Blampied, Neville M.³, France, Karyn G.¹, Rispoli, Mandy⁴

Source: Behavioral Sleep Medicine. May/Jun2024, Vol. 22 Issue 3, p285-297. 13p.

Subject Terms: *SLEEP, *ANGELMAN syndrome, *BEDTIME, *HELP-seeking behavior, *SYNDROMES in children, *DEVELOPMENTAL disabilities

Sleep disturbance in Angelman syndrome patients.

Authors: Qu, Song¹ (AUTHOR), Wang, Junyi¹ (AUTHOR), Guan, Xingying¹ (AUTHOR), Song, Cui² (AUTHOR) songcui801106@163.com, Wang, Yanyan¹ (AUTHOR) yanyan_wang@tmmu.edu.cn

Source: Orphanet Journal of Rare Diseases. 4/5/2024, Vol. 19 Issue 1, p1-8. 8p.

Subject Terms: *SLEEP interruptions, *ANGELMAN syndrome, *SOMNOLOGY, *DROWSINESS, *BEHAVIOR therapy, *SLEEP disorders

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

Authors: Gwaltney, Angela¹, Potter, Sarah Nelson¹, Peters, Sarika U.², Barbieri-Welge, Rene L.³, Horowitz, Lucia T.⁴, Noll, Lisa M.^5,6, Hundley, Rachel J.², Bird, Lynne M.^7,8, Tan, Wen-Hann⁹, Sadhwani, Anjali¹⁰, anjali.sadhwani@childrens.harvard.edu, Wheeler, Anne¹

Source: Journal of Autism & Developmental Disorders; Oct2024, Vol. 54 Issue 10, p3863-3887, 25p

Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.

Authors: Hagenaar, D. A.^1,2,3 (AUTHOR) d.hagenaar@erasmusmc.nl, Bindels‐de Heus, K. G. C. B.^1,3 (AUTHOR), Lubbers, K.^1,2 (AUTHOR), ten Hoopen, L. W.^1,2 (AUTHOR), Rietman, A. B.^1,2 (AUTHOR), de Nijs, P. F. A.^1,2 (AUTHOR), Hillegers, M. H. J.² (AUTHOR), Moll, H. A.^1,3 (AUTHOR), de Wit, M. C. Y.^1,4 (AUTHOR), Dieleman, G. C.^1,2 (AUTHOR), Mous, S. E.^1,2 (AUTHOR)

Source: Journal of Intellectual Disability Research. Mar2024, Vol. 68 Issue 3, p248-263. 16p.

Subject Terms: *RESEARCH funding, *ANGELMAN syndrome, *MENTAL illness, *QUESTIONNAIRES, *HOSPITALS, *AFFECTIVE disorders, *AGE distribution, *LONGITUDINAL method, *BEHAVIOR disorders in children, *QUALITY of life, *PSYCHOLOGICAL stress, *CHILD Behavior Checklist, *PARENTS of children with disabilities, *PSYCHOSOCIAL factors, *REGRESSION analysis, *GENOTYPES, *SLEEP disorders, *DISEASE complications, *SYMPTOMS, *CHILDREN

Geographic Terms: NETHERLANDS

Differences in structure, dynamics, and zinc coordination between isoforms of human ubiquitin ligase UBE3A.

Authors: Bregnard, Thomas A.¹ bezsonova@uchc.edu, Fairchild, Daniel¹, Xiang Chen², Erlandsen, Heidi³, Tarasov, Sergey G.⁴, Walters, Kylie J.², Korzhnev, Dmitry M.¹, Bezsonova, Irina¹

Source: Journal of Biological Chemistry. Feb2025, Vol. 301 Issue 2, p1-14. 14p.

Subject Terms: *HUMAN papillomavirus, *ANGELMAN syndrome, *NUCLEAR magnetic resonance spectroscopy, *NEUROLOGICAL disorders, *UBIQUITIN, *ZINC-finger proteins

CaMKIIα hub ligands are unable to reverse known phenotypes in Angelman syndrome mice.

Authors: Gauger, Stine J.¹ (AUTHOR), Lie, Maria E. K.¹ (AUTHOR), Wallaard, Ilse² (AUTHOR), Tian, Yongsong¹ (AUTHOR), Marek, Aleš³ (AUTHOR), Frølund, Bente¹ (AUTHOR), van Woerden, Geeske M.^2,4 (AUTHOR), Elgersma, Ype⁴ (AUTHOR), Kornum, Birgitte R.⁵ (AUTHOR), Wellendorph, Petrine¹ (AUTHOR) pw@sund.ku.dk

Source: Basic & Clinical Pharmacology & Toxicology. Jan2025, Vol. 136 Issue 1, p1-13. 13p.

Subject Terms: *ANGELMAN syndrome, *LIGANDS (Biochemistry), *ISCHEMIC stroke, *NEUROPLASTICITY, *ACETIC acid

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Authors: Sabeh, Pascale¹, Dumas, Samantha A.^1,2, Maios, Claudia³, Daghar, Hiba³, Korzeniowski, Marek², Rousseau, Justine¹, Lines, Matthew⁴, Guerin, Andrea⁵, Millichap, John J.⁶, Landsverk, Megan⁷, Grebe, Theresa⁸, Lindstrom, Kristin⁹, Strober, Jonathan¹⁰, Ait Mouhoub, Tarik¹¹, Zweier, Christiane¹², Steinraths, Michelle¹³, Hebebrand, Moritz¹⁴, Callewaert, Bert¹⁵, Abou Jamra, Rami¹⁶, Kautza-Lucht, Monika¹⁷

Source: American Journal of Human Genetics; Jan2025, Vol. 112 Issue 1, p75-86, 12p

Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses.

Authors: Su, Wenyue¹ (AUTHOR), Liu, Yan¹ (AUTHOR), Lam, Aileen² (AUTHOR), Hao, Xiaoning² (AUTHOR), Baudry, Michel¹ (AUTHOR), Bi, Xiaoning² (AUTHOR) xbi@westernu.edu

Source: Scientific Reports. 10/30/2023, Vol. 13 Issue 1, p1-13. 13p.

Subject Terms: *ANGELMAN syndrome, *MEMORY disorders, *RECOLLECTION (Psychology), *HEBBIAN memory, *LABORATORY mice, *TISSUE metabolism

Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.

Authors: Tones, Megan¹ (AUTHOR) m.tones@qut.edu.au, Zeps, Nikolajs¹ (AUTHOR), Wyborn, Yvette¹ (AUTHOR), Smith, Adam¹ (AUTHOR), Barrero, Roberto A.¹ (AUTHOR), Heussler, Helen² (AUTHOR), Cross, Meagan³ (AUTHOR), McGree, James⁴ (AUTHOR), Bellgard, Matthew^1,5 (AUTHOR) m.bellgard@uel.co.uk

Source: Orphanet Journal of Rare Diseases. 10/19/2023, Vol. 18 Issue 1, p1-10. 10p.

Subject Terms: *MEDICAL registries, *ANGELMAN syndrome, *MACHINE translating, *CULTURAL pluralism, *ENGLISH language, *PATIENT reported outcome measures

Precision Medicine in Angelman Syndrome.

Authors: Manssen, Lena¹ (AUTHOR) lena.manssen@med.uni-muenchen.de, Krey, Ilona² (AUTHOR), Gburek-Augustat, Janina³ (AUTHOR), von Hagen, Cornelia^1,4 (AUTHOR), Lemke, Johannes R.^2,5 (AUTHOR), Merkenschlager, Andreas³ (AUTHOR), Weigand, Heike¹ (AUTHOR), Makowski, Christine¹ (AUTHOR)

Source: Neuropediatrics. Apr2025, Vol. 56 Issue 2, p69-82. 14p.

Subject Terms: *SLEEP interruptions, *ANGELMAN syndrome, *INDIVIDUALIZED medicine, *THERAPEUTICS, *GENE expression

Health-related quality of life and medication use among individuals with Angelman syndrome.

Authors: Khan, Nasreen¹ (AUTHOR) Nasreen.khan@rwecon.com, Cabo, Raquel² (AUTHOR), Burdine, Rebecca D.³ (AUTHOR), Tan, Wen-Hann⁴ (AUTHOR), Keary, Christopher J.⁵ (AUTHOR), Ochoa-Lubinoff, Cesar⁶ (AUTHOR), Bird, Lynne M.⁷ (AUTHOR)

Source: Quality of Life Research. Jul2023, Vol. 32 Issue 7, p2059-2067. 9p. 5 Charts, 2 Graphs.

Subject Terms: *QUALITY of life, *ANGELMAN syndrome, *AGE groups, *VISUAL analog scale, *DRUGS

UBE3A: Bridging the gap between neurodevelopment, neural function, and neurodegenerative woes.

Authors: Nash, Kevin R¹ (AUTHOR), Jinwal, Umesh K² (AUTHOR), Bhat, Krishna Moorthi³ (AUTHOR) bhatk@uab.edu

Source: Journal of Alzheimer's Disease. Nov2024, Vol. 102 Issue 1, p3-10. 8p.

Subject Terms: *UBIQUITIN ligases, *ANGELMAN syndrome, *HUNTINGTON disease, *PROTEOLYSIS, *AUTISM spectrum disorders

Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome.

Authors: O'Donohoe, Darragh S.¹ (AUTHOR), Whelan, Sally¹ (AUTHOR), Mannion, Arlene¹ (AUTHOR), Tones, Megan² (AUTHOR), Heussler, Helen³ (AUTHOR), Bellgard, Matthew^2,4 (AUTHOR), Leader, Geraldine¹ (AUTHOR) geraldine.leader@universityofgalway.ie

Source: Sleep Medicine. Nov2024, Vol. 123, p1-6. 6p.

Subject Terms: *SLEEP interruptions, *ANGELMAN syndrome, *CHILD behavior, *DEVELOPMENTAL disabilities, *DEVELOPMENTAL delay

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Authors: Urakawa, Tatsuki^1,2 (AUTHOR), Soejima, Hidenobu³ (AUTHOR), Yamoto, Kaori⁴ (AUTHOR), Hara-Isono, Kaori¹ (AUTHOR), Nakamura, Akie¹ (AUTHOR), Kawashima, Sayaka¹ (AUTHOR), Narusawa, Hiromune¹ (AUTHOR), Kosaki, Rika⁵ (AUTHOR), Nishimura, Yutaka⁶ (AUTHOR), Yamazawa, Kazuki⁷ (AUTHOR), Hattori, Tetsuo⁸ (AUTHOR), Muramatsu, Yukako⁹ (AUTHOR), Inoue, Takanobu^1,10 (AUTHOR), Matsubara, Keiko^1,11 (AUTHOR), Fukami, Maki¹ (AUTHOR), Saitoh, Shinji¹² (AUTHOR), Ogata, Tsutomu^4,13 (AUTHOR), Kagami, Masayo¹ (AUTHOR) kagami-ms@ncchd.go.jp

Source: Clinical Epigenetics. 10/5/2024, Vol. 16 Issue 1, p1-18. 18p.

Subject Terms: *PRADER-Willi syndrome, *ANGELMAN syndrome, *GENETIC variation, *REPRODUCTIVE technology, *SEQUENCE analysis

Rhythmic high-amplitude delta with superimposed spikes (RHADS): a treatment dilemma.

Authors: Shukla, Vanita¹ (AUTHOR), Webb, Paul¹ (AUTHOR), AlMohaimeed, Bashayer¹ (AUTHOR), Lee, James¹ (AUTHOR), Boelman, Cyrus¹ (AUTHOR) cyrus.boelman@cw.bc.ca

Source: Oxford Medical Case Reports. Oct2024, Vol. 2024 Issue 10, p1-5. 5p.

Subject Terms: *RETT syndrome, *ANGELMAN syndrome, *ELECTROENCEPHALOGRAPHY, *SEIZURES (Medicine), *BRAIN diseases

Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.

Authors: Egawa, Kiyoshi¹ (AUTHOR) egakiyo@huhp.hokudai.ac.jp, Watanabe, Miho² (AUTHOR), Shiraishi, Hideaki¹ (AUTHOR), Sato, Daisuke¹ (AUTHOR), Takahashi, Yukitoshi³ (AUTHOR), Nishio, Saori⁴ (AUTHOR), Fukuda, Atsuo² (AUTHOR)

Source: Scientific Reports. 4/17/2023, Vol. 13 Issue 1, p1-12. 12p.

Subject Terms: *ANGELMAN syndrome, *DRUG target, *LABORATORY mice, *ANIMAL disease models, *PYRAMIDAL neurons, *CHLORIDE channels, *VAGUS nerve