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Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet. 2014;164(7):1648–58.\nHagerman RJ, Berry-Kravis E, Ono MY, Tartaglia N, Lachiewicz A, Kronk B, Delahunty C, Kauffman W, Hessl DR, Visootsak J, Picker J, Gane L, Tranfaglia M, Hatton D, Rivera S, Farzin F, Lemons-Chitwood K, Greiss-Hess L, Ferguson H. Advances in the treatment of fragile X syndrome. J Pediatr. 2009;123:378–90.\nWang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010;7(3):264–74.\nVan der Molen MJW, Van der Molen MW, Ridderinkhof KR, Hamel BCJ, Curfs LMG, Ramakers GJA. Auditory and visual cortical activity during selective attention in fragile X syndrome: a cascade of processing deficiencies. Clin Neurophysiol. 2012;123(4):720–9.\nAbbeduto L, Brady N, Kover ST. Language development and fragile X syndrome: profiles, syndrome-specificity, and within-syndrome differences. Ment Retard Dev Disabil Res Rev. 2007;13(1):36–46.\nRoberts JE, Chapman RS, Warren SF. Speech and language development and intervention in Down syndrome and fragile X syndrome. Baltimore: Brookes Pub; 2008.\nLosh M, Martin GE, Klusek J, Hogan-Brown AL, Sideris J. Social communication and theory of mind in boys with autism and fragile X syndrome. Fron Psychol. 2012;3:1–12.\nLewis P, Abbeduto L, Murphy M, Richmond E, Giles N, Bruno L, Schroeder S. Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. J Intellect Disabil Res. 2006a;50:523–45.\nMadison LS, George C, Moeschler JB. Cognitive functioning in the fragile-X syndrome: a study of intellectual, memory, and communication skills. J Ment Defic Res. 1986;30:129–48.\nPaul R, Dykens E, Watson M, Breg WR, Cohen D. A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with non-specific mental retardation. J Autism Dev Disord 1987;17:457–468.\nSudhalter V, Maranion M, Brooks P. Expressive semantic deficit in the productive language of males with fragile X syndrome. Am J Med Genet. 1992;43:196–7.\nAbbeduto L, Hagerman R. Language and communication in fragile X syndrome. Ment Retard Dev Disabil Res Rev. 1997;3:313–22.\nDunn LM, Dunn LM. Peabody Picture Vocabulary Test-Revised. Circle Pines, MN: American Guidance Service; 1981.\nCarrow-Woolfolk E. Test for auditory comprehension of language-revised. Allen, TX: DLM Teaching Resources; 1985.\nAbbeduto L, Murphy M, Cawthon S, Richmond E, Weissman M, Karadottir S, O’Brien A. Receptive language skills of adolescents and young adults with Down or fragile X syndrome. Am J Ment Retard. 2003;108:149–60.\nChapman R, Schwartz S, Kay-Raining Bird E. Language skills of children and adolescents with Down syndrome: I. Comprehension. J Speech Hear Res. 1991;34:1106–20.\nBrock J, Jarrold C, Farran EK, Laws G, Riby DM. Do children with Williams syndrome really have good vocabulary knowledge? Methods for comparing cognitive and linguistic abilities in developmental disorders. Clin Linguist Phon. 2007;21(9):673–88.\nChapman RS, Seung HK, Schwartz SE, Bird EK. Language skills of children and adolescents with Down syndrome: II. Production deficits. J Sp Lang Hear Res. 1998;41(4):861–73.\nRoberts JE, Weisenfeld LA, Hatton DD, Heath M, Kaufmann WE. Social approach and autistic behavior in children with fragile X syndrome. J Aut Dev Dis. 2007;37(9):1748–60.\nDunn LM, Dunn LM. Peabody Picture Vocabulary Test. Third Edition. Circle Pines, MN: American Guidance Service; 1997.\nDunn LM, Dunn LM. Peabody Picture Vocabulary Test, Fourth Edition. Minneapolis, MN: Pearson; 2007.\nSterling A, Abbeduto L. Language development in school-age females with fragile x syndrome. J Intellect Disabil Res. 2012;56:974–83.\nLevy Y, Gottesman R, Borochowitz Z, Frydman M, Sagi M. Language in boys with fragile X syndrome. J Child Lang. 2006a;33:125–44.\nCarrow-Woolfolk E. Test for auditory comprehension of language. 3rd ed. Austin, TX: Pro-Ed; 1999.\nMiolo G, Chapman RS, Sindberg HA. Sentence comprehension in adolescents with Down syndrome and typically developing children. Journal of Speech, Language, and Hearing Research. 2005.\nChapman R. Language learning in Down syndrome: the speech and language profile compared to adolescents with cognitive impairment of unknown origin. Downs Syndr Res Practice. 2006;10(2):61–6.\nBishop DVM. Test for Reception of Grammar-Second Edition. London: The Psychological Corporation; 2003.\nWilliams KT. Expressive Vocabulary Test, Second Edition. J Am Acad Child Adolesc Psychiatry. 1997;42:864–72.\nFinestack LH, Sterling AM, Abbeduto L. Discriminating Down syndrome and fragile X syndrome based on language ability. J Child Lang. 2017;40(1):244–65.\nPhilofsky A, Hepburn SL, Hayes A, Hagerman R, Rogers SJ. Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. Am J Ment Retard. 2004;109(3):208–18.\nMullen EM. Mullen scales of early learning. Circle Pines, MN: AGS; 1995.\nLewis P, Abbeduto L, Murphy M, Richmond E, Giles N, Bruno L, Schroeder S. Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. J Intel Disabil Res. 2006b;50(7):532–45.\nMcDuffie A, Kover S, Abbeduto L, Lewis P, Brown T. Profiles of receptive and expressive language abilities in boys with comorbid fragile X syndrome and autism. Am J Intel Dev Disabil. 2012;117(1):18–32.\nHaebig E, Sterline A. Investigating the receptive-expressive vocabulary profile in children with idiopathic ASD and comorbid ASD and fragile X syndrome. J Autism Dev Disord. 2017;47(2):260–74.\nGross C, Hoffmann A, Bassell GJ, Berry-Kravis EM. Therapeutic strategies in fragile X syndrome: from bench to bedside and back. Neurotherapeutics. 2015;12(3):584–608.\nKover ST, Pierpont EI, Kim JS, Brown WT, Abbeduto L. A neurodevelopmental perspective on the acquisition of nonverbal cognitive skills in adolescents with fragile X syndrome. Dev Neuropsychol. 2013;38(7):445–60.\nKogan CS, Boutet I, Cornish K, Zangenehpour S, Mullen KT, Holden JJ, Der Kaloustian VM, Andermann E, Chaudhuri A. Differential impact of the FMR1 gene on visual processing in fragile X syndrome. Brain. 2004;127:591–601.\nBerry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, Decle P, Potanos T, Cook E, Salt J, Maino D, Weinberg D, Lara R, Jardini T, Cogswell J, Johnson S, Hagerman R. Effect of CX516, an AMPA-modulating compound on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adoles Psychoharmacol. 2006;16:525–40.\nKline RB. Is the Fourth Edition Stanford-Binet a four-factor test? Confirmatory factor analyses of alternative models for ages 2 through 23. J Psychoeduc Assess. 1989;7(1):4–13.\nThorndike RL, Hagen EP, Sattler JM. Stanford-Binet Intelligence Scales, Fourth Edition. Itasca, IL: Riverside Publishing; 1986.\nLord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E. Austism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord. 1989;19(2):185–212.\nFalkmer T, Anderson K, Falkmer M, Horlin C. Diagnostic procedures in autism spectrum disorders: a systematic literature review. Eur Child Adolesc Psychiatry. 2013;22(6):329–40.\nZimmermann IL, Steiner VG, Pond RE. Preschool Language Scale. 4th ed. San Antonio, TX: The Psychological Corporation; 2002.\nSemel E, Wiig EH, Secord WA. Clinical evaluation of language fundamentals. 3rd ed. San Antonio, TX: The Psychological Corporation; 1995.\nSalvia J, Ysseldyke JE, Bolt S. Assessment: in special and inclusive education. Boston: Houghton Mifflin; 2007.\nMartin G, Losh M, Estigarribia B, Sideris J, Roberts J. Longitudinal profiles of expressive vocabulary, pragmatics, syntax in boys with fragile X or Down syndrome. Int J Lang Commun Dis. 2013;48(4):432–43.\nBerry-Kravis E, Hessl D, Abbeduto L, Reiss A, Beckel-Mitchener A, Urv T, Outcome Measures Working Groups. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr 2013;34(7):508–522.\nBudimirovic D, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss A, King M, Abbeduto L, Kaufmann W. Updated report on tools to measure outcomes in clinical trials of fragile X syndrome. J Neurodev Disord. 2017;9(1):14.\nSansone S, Schneider A, Bickel E, Berry-Kravis E, Prescott C, Hessl D. Improving IQ measurement in intellectual disabilities using true deviation from population norms. J Neurodev Disord. 2014;6:1–14.\nHus V, Lord C. The autism diagnostic observation schedule, module 4: revised algorithm and standardized severity scores. J Autism Dev Disord. 2014;44(8):1996–2012.\nGray S, Plante E, Vance R, Henrichsen M. Performance of SLI and NL children on four tests of single-word vocabulary. Lang Sp Hear Serv School. 1999;30:196–206.\nMervis C, Klein-Tasman BP. Methodological issues in group-matching designs: α levels for control variable comparisons and characteristics of control and target variables. J Autism Dev Disord. 2004;34(1):7–17.",{"EN":191},"Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential.",{"EN":193},"Vocabulary comprehension in adults with fragile X syndrome (FXS)",{"VOID":195},"10.1186\u002Fs11689-019-9285-x","PUBLICATION","VERIFIED","Auto Verify","https:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-019-9285-x",[201,218,234,250,266,281,297,312,329,344],{"id":202,"sortIndex":203,"researcher":18,"roles":204,"affiliations":206,"properties":215},"dd5545fc-ef78-4c31-b98d-324b905c26f2",2,[205],"AUTHOR",[207],{"id":18,"sortIndex":19,"affiliation":208,"properties":18},{"id":209,"createTime":210,"updateTime":210,"relativeEntities":211,"slug":18,"properties":212,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"9fa61dae-835a-46fb-a91c-8bfd8a03e7cf","2023-12-06T12:33:50.966+00:00",[],{"title":213},{"VI":214},"Department of Neurology, University of Miami, Miller School of Medicine, Miami, USA",{"title":216},{"VI":217},"Joanne Wuu",{"id":219,"sortIndex":220,"researcher":18,"roles":221,"affiliations":222,"properties":231},"d03adaf5-0afd-4beb-a806-244bd3a82bf5",4,[205],[223],{"id":18,"sortIndex":19,"affiliation":224,"properties":18},{"id":225,"createTime":226,"updateTime":226,"relativeEntities":227,"slug":18,"properties":228,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"d49ba966-833b-4a87-8442-65d2d9972eb0","2024-01-25T17:37:16.520+00:00",[],{"title":229},{"VI":230},"University of Illinois at Chicago, Institute for Juvenile Research, Chicago, USA",{"title":232},{"VI":233},"Stephen J. 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However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the \u003Cjats:italic>FMR1\u003C\u002Fjats:italic> premutation across midlife, and associations with family history of fragile X-associated tremor\u002Fataxia syndrome (FXTAS) and CGG repeat length.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Methods\u003C\u002Fjats:title>\n                \u003Cjats:p>Forty-five women with the \u003Cjats:italic>FMR1\u003C\u002Fjats:italic> premutation aged 35–64 years at study entry participated in 1–5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Results\u003C\u002Fjats:title>\n                \u003Cjats:p>Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Conclusions\u003C\u002Fjats:title>\n                \u003Cjats:p>Results suggest that women with the \u003Cjats:italic>FMR1\u003C\u002Fjats:italic> premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the \u003Cjats:italic>FMR1\u003C\u002Fjats:italic> premutation.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>",{"EN":406},"Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation",{"VOID":408},"35026985",{"VOID":410},"10.1186\u002Fs11689-022-09415-3",[412],"EN","https:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-022-09415-3",[415,436,457,478,495,510],{"id":416,"sortIndex":220,"researcher":18,"roles":417,"affiliations":418,"properties":429},"9fcb7ad1-369f-4472-b0e0-c5a58bbac272",[],[419],{"id":420,"sortIndex":19,"affiliation":421,"properties":18},"f9b44148-f5b3-41d7-a343-3ec4cf69f721",{"id":422,"createTime":423,"updateTime":423,"relativeEntities":424,"slug":425,"properties":426,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"8c6a65ee-c1ac-4995-8462-ad0abaf458a4","2024-04-16T23:51:41.685+00:00",[],"Department-of-Psychiatry-and-Behavioral-Sciences-and-MIND-Institute-University-of-California-Davis-Health-2825-50th-Street-Sacramento-CA-95817-USA",{"title":427},{"EN":428},"Department of Psychiatry and Behavioral Sciences and MIND Institute, University of California Davis Health, 2825 50th Street, Sacramento, CA, 95817, USA",{"openalex":430,"orcid":432,"title":434},{"VOID":431},"A5069689681",{"VOID":433},"https:\u002F\u002Forcid.org\u002F0000-0003-4220-7897",{"EN":435},"Angela John Thurman",{"id":437,"sortIndex":19,"researcher":18,"roles":438,"affiliations":439,"properties":450},"25c4cb22-2a29-4656-83b3-400779907b85",[],[440],{"id":441,"sortIndex":19,"affiliation":442,"properties":18},"31c54140-dbdc-47fd-ab1f-d547c1b2e214",{"id":443,"createTime":444,"updateTime":444,"relativeEntities":445,"slug":446,"properties":447,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"d58c6a2e-e67b-4fda-bf08-0d41f669b9cf","2024-04-16T23:51:41.596+00:00",[],"Department-of-Communication-Sciences-and-Disorders-Arnold-School-of-Public-Health-University-of-South-Carolina-1705-College-Street-SC-29208-Columbia-USA",{"title":448},{"EN":449},"Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, 1705 College Street, SC 29208, Columbia, USA",{"openalex":451,"orcid":453,"title":455},{"VOID":452},"A5055780470",{"VOID":454},"https:\u002F\u002Forcid.org\u002F0000-0002-2818-0344",{"EN":456},"Jessica Klusek",{"id":458,"sortIndex":136,"researcher":18,"roles":459,"affiliations":460,"properties":471},"5cedb310-d90b-447b-84b8-cba39974f2c3",[],[461],{"id":462,"sortIndex":19,"affiliation":463,"properties":18},"0abc9af6-7723-47b7-bbbf-2645a04712ed",{"id":464,"createTime":465,"updateTime":465,"relativeEntities":466,"slug":467,"properties":468,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"fef33369-fe3e-434b-af73-ba5f026f8eff","2024-04-16T23:51:41.671+00:00",[],"Waisman-Center-University-of-Wisconsin-Madison-1500-Highland-Ave-Madison-WI-53705-USA",{"title":469},{"EN":470},"Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI, 53705, USA",{"openalex":472,"orcid":474,"title":476},{"VOID":473},"A5041846087",{"VOID":475},"https:\u002F\u002Forcid.org\u002F0000-0001-6548-2096",{"EN":477},"Marsha R. 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Prevention of common neurodegenerative disorders in the elderly. Exp Gerontol. 2009;44(1):46–50.",{"doi":907},"10.1016\u002Fj.exger.2008.06.006",{"id":18,"text":909,"url":18,"identifiers":910},"Hartley SL, Seltzer MM, Hong J, Greenberg JS, Smith L, Almeida D, et al. Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome: a diathesis-stress model. Int J Behav Dev. 2012;36:53–61.",{"doi":911},"10.1177\u002F0165025411406857",{"id":18,"text":913,"url":18,"identifiers":914},"Smith LE, Seltzer MM, Greenberg JS. Daily health symptoms of mothers of adolescents and adults with fragile X syndrome and mothers of adolescents and adults with autism spectrum disorder. J Autism Dev Disord. 2012;42(9):1836–46.",{"doi":915},"10.1007\u002Fs10803-011-1422-7",{"id":18,"text":917,"url":18,"identifiers":918},"Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, et al. 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Decisions to participate in fragile X and other genomics-related research: Native American and African Am",{},{"id":928,"createTime":929,"updateTime":930,"relativeEntities":931,"slug":932,"properties":933,"entityType":196,"verifyStatus":197,"verifyTime":930,"verifyNote":198,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19,"primaryUrl":942,"fullTextUrl":18,"authors":943,"publicationType":357,"publisherRelationship":1033,"citationCount":18,"citationInfo":18,"publishDate":1066,"publishYear":1067,"citationAnalyzeStatus":17,"lastCitationAnalyze":18,"indexDatabases":18,"openAccess":18,"references":18,"isForceReanalyzing":393},"d5270b27-23cd-4b06-a21f-24e30726cadd","2024-01-12T11:59:59.377+00:00","2025-01-25T23:48:55.049+00:00",[],"Characterization-of-Rett-Syndrome-like-phenotypes-in-Mecp2-knockout-rats",{"references":934,"abstract":936,"title":938,"doi":940},{"VOID":935},"Hagberg B. Rett syndrome: long-term clinical follow-up experiences over four decades. 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Hum Mol Genet. 2009;18:956–65.\nGuy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007;315:1143–7.\nKerr B, Alvarez-Saavedra M, Saez MA, Saona A, Young JI. Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice. Hum Mol Genet. 2008;17:1707–17.\nWohr M, Scattoni ML. Behavioural methods used in rodent models of autism spectrum disorders: current standards and new developments. Behav Brain Res. 2013;251:5–17.",{"EN":937},"Rett Syndrome (RTT) is a neurodevelopmental disease caused by the disruption of the MECP2 gene. Several mouse models of RTT have been developed with Mecp2 disruptions. Although the mouse models are widely used in RTT research, results obtained need to be validated in other species. Therefore, we performed these studies to characterize phenotypes of a novel Mecp2\n                           −\u002FY rat model and compared them with the Mecp2\n                           \n                    tm1.1Bird\n                   mouse model of RTT. RTT-like phenotypes were systematically studied and compared between Mecp2\n                           −\u002FY rats and Mecp2\n                           −\u002FY mice. In-cage conditions of the rats were monitored. Grip strength and spontaneous locomotion were used to evaluate the motor function. Three-chamber test was performed to show autism-type behaviors. Breathing activity was recorded with the plethysmograph. Individual neurons in the locus coeruleus (LC) were studied in the whole-cell current clamp. The lifespan of the rats was determined with their survival time. \n                           Mecp2\n                           −\u002FY rats displayed growth retardation, malocclusion, and lack of movements, while hindlimb clasping was not seen. They had weaker forelimb grip strength and a lower rate of locomotion than the WT littermates. Defects in social interaction with other rats were obvious. Breathing frequency variation and apnea in the null rats were significantly higher than in the WT. LC neurons in the null rats showed excessive firing activity. A half of the null rats died in 2 months. Most of the RTT-like symptoms were comparable to those seen in Mecp2\n                           −\u002FY mice, while some appeared more or less severe. The findings that most RTT-like symptoms exist in the rat model with moderate variations and differences from the mouse models support the usefulness of both Mecp2\n                           −\u002FY rodent models. The novel Mecp2\n                           −\u002FY rat model recapitulated numerous RTT-like symptoms as Mecp2\n                           −\u002FY mouse models did, which makes it a valuable alternative model in the RTT studies when the body size matters.",{"EN":939},"Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats",{"VOID":941},"10.1186\u002Fs11689-016-9156-7","https:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-016-9156-7",[944,961,973,985,997,1009,1021],{"id":945,"sortIndex":220,"researcher":18,"roles":946,"affiliations":947,"properties":958},"c0a64c4f-b503-4f1c-9eb0-f82766347a9f",[205],[948],{"id":18,"sortIndex":19,"affiliation":949,"properties":18},{"id":950,"createTime":951,"updateTime":952,"relativeEntities":953,"slug":954,"properties":955,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"89cd0665-b49c-4e9d-8729-82b66c326ce6","2024-02-09T02:37:48.091+00:00","2024-10-16T20:57:35.232+00:00",[],"Department-of-Biology-Georgia-State-University-Atlanta-USA",{"title":956},{"VI":957},"Department of Biology, Georgia State University, Atlanta, USA",{"title":959},{"VI":960},"Hao Xing",{"id":962,"sortIndex":136,"researcher":18,"roles":963,"affiliations":964,"properties":970},"0950b372-b08b-4da5-962c-e8b01ab6fa9f",[205],[965],{"id":18,"sortIndex":19,"affiliation":966,"properties":18},{"id":950,"createTime":951,"updateTime":952,"relativeEntities":967,"slug":954,"properties":968,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":969},{"VI":957},{"title":971},{"VI":972},"Christopher M. 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A. Genetics-First Approaches in Biological Psychiatry. Biol Psychiatry. 2018;84(4):234-5. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.biopsych.2018.06.008.\nSanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, et al. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019;25:1477–87.\nMoreau CA, Raznahan A, Bellec P, Chakravarty M, Thompson PM, Jacquemont S. Dissecting autism and schizophrenia through neuroimaging genomics. Brain. 2021. https:\u002F\u002Fdoi.org\u002F10.1093\u002Fbrain\u002Fawab096.\nSønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, et al. Effects of copy number variations on brain structure and risk for psychiatric illness: large-scale studies from the ENIGMA working groups on CNVs. Hum Brain Mapp. 2021. https:\u002F\u002Fdoi.org\u002F10.1002\u002Fhbm.25354.\nSeidlitz J, Nadig A, Liu S, Bethlehem RAI, Vértes PE, Morgan SE, et al. Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders. Nat Commun. 2020;11:3358.\nModenato C, Martin-Brevet S, Moreau CA, Rodriguez-Herreros B, Kumar K, Draganski B, et al. Lessons learnt from neuroimaging studies of copy number variants, a systematic review. Biol Psychiat. 2021. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.biopsych.2021.05.028.\nRaznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, et al. Sex-chromosome dosage effects on gene expression in humans. Proc Natl Acad Sci U S A. 2018;115:7398–403.\nRe L, Birkhoff JM. The 47, XYY syndrome, 50 years of certainties and doubts: a systematic review. Aggress Violent Beh. 2015;22:9–17.\nPrice WH, Whatmore PB (1967): Criminal behaviour and the XYY male. Nature. Retrieved from https:\u002F\u002Fwww.nature.com\u002Farticles\u002F213815a0\nGötz MJ, Johnstone EC, Ratcliffe SG. Criminality and antisocial behaviour in unselected men with sex chromosome abnormalities. Psychol Med. 1999;29:953–62.\nMaeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N. A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi. 1991;36:117–29.\nJacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974;37:359–76.\nBishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, et al. Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child. 2011;96:954–9.\nHong DS, Reiss AL. Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet Neurol. 2014;13:306–18.\nvan Rijn S. A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47, XXY, 47, XXX, 47, XYY). Curr Opin Psychiatry. 2019;32:79–84.\nRaznahan A, Lee NR, Greenstein D, Wallace GL, Blumenthal JD, Clasen LS, Giedd JN. Globally divergent but locally convergent X- and Y-chromosome influences on cortical development. Cereb Cortex. 2016;26:70–9.\nBryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL. Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol. 2012;54:1149–56.\nBardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, et al. 47, XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013;163:1085–94.\nRoss JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, et al. Behavioral and social phenotypes in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Pediatrics. 2012;129:769–78.\nLee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN. Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. J Child Psychol Psychiatry. 2012;53:1072–81.\nRau S, Whitman ET, Schauder K, Gogate N, Lee NR, Kenworthy L, Raznahan A. Patterns of psychopathology and cognition in sex chromosome aneuploidy. J Neurodev Disord. 2021;13(1):61. https:\u002F\u002Fdoi.org\u002F10.1186\u002Fs11689-021-09407-9.\nLee NR, Niu X, Zhang F, Clasen LS, Kozel BA, Smith ACM, et al. Variegation of autism related traits across seven neurogenetic disorders. Transl Psychiatry. 2022;12:149.\nTartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, et al. Autism spectrum disorder in males with sex chromosome aneuploidy: XXY\u002FKlinefelter syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017;38:197–207.\nOperto FF, Pastorino GMG, Amadori E, Mazza R, Bernardo P, Campanozzi S, et al. Cognitive profile, emotional-behavioral features, and parental stress in boys with 47, XYY syndrome. Cogn Behav Neurol. 2019;32:87–94.\nKaufman J, Birmaher B, Brent D, Rao U, Flynn C, Moreci P, et al. Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (K-SADS-PL): initial reliability and validity data. J Am Acad Child Adolesc Psychiatry. 1997;36:980–8.\nAchenbach TM, Howell CT, Quay HC, Conners CK. National survey of problems and competencies among four- to sixteen-year-olds: parents’ reports for normative and clinical samples. Monogr Soc Res Child Dev. 1991;56:1–131.\nAicher C, Jacobs AZ, Clauset A. Learning latent block structure in weighted networks. J Complex Netw. 2014;3:221–48.\nBetzel RF, Medaglia D, Basset DS. Diversity of meso-scale architecture in human and non-human connectomes. Nat Commun. 2018;9:346.\nJoseph L, Farmer C, Chlebowski C, Henry L, Fish A, Mankiw C, Xenophontos A, Clasen L, Sauls B, Seidlitz J, Blumenthal J, Torres E, Thurm A, Raznahan A. Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome. J Neurodev Disord. 2018;10(1):30. https:\u002F\u002Fdoi.org\u002F10.1186\u002Fs11689-018-9248-7.\nAbramsky L, Chapple J. 47, XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn. 1997;17:363–8.\nGregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18:1056–65.\nBrannan AM, Heflinger CA, Bickman L. The caregiver strain questionnaire: measuring the impact on the family of living with a child with serious emotional disturbance. J Emot Behav Disord. 1997;5:212–22.\nLord C, Rutter M, Le CA. Autism diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24:659–85.\nAchenbach TM. Manual for Child Behavior Checklist and revised behavior profile. Burlington, VT: University of Vermont; 1983.\nGlasson EJ, Buckley N, Chen W, Leonard H, Epstein A, Skoss R, et al. Systematic review and meta-analysis: mental health in children with neurogenetic disorders associated with intellectual disability. J Am Acad Child Adolesc Psychiatry. 2020;59:1036–48.\nConstantino JN, Davis SA, Todd RD, Schindler MK, Gross MM, Brophy SL, et al. Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised. J Autism Dev Disord. 2003;33:427–33.\nFoa EB, Huppert JD, Leiberg S, Langner R, Kichic R, Hajcak G, Salkovskis PM. The obsessive-compulsive inventory: development and validation of a short version. Psychol Assess. 2002;14:485–96.\nWilson BN, Crawford SG, Green D, Roberts G, Aylott A, Kaplan BJ. Psychometric properties of the revised Developmental Coordination Disorder Questionnaire. Phys Occup Ther Pediatr. 2009;29:182–202.\nConners C (2008): Conners 3rd Edition: Manual Toronto. Ontario, Canada: Multi-Health Systems [Google Scholar].\nPatton JH, Stanford MS, Barratt ES. Factor structure of the Barratt impulsiveness scale. J Clin Psychol. 1995;51:768–74.\nVitacco MJ, Rogers R, Neumann CS. The antisocial process screening device: an examination of its construct and criterion-related validity. Assessment. 2003;10:143–50.\nFarmer CA, Aman MG. Development of the children’s Scale of Hostility and Aggression: Reactive\u002FProactive (C-SHARP). Res Dev Disabil. 2009;30:1155–67.\nGoodman R. The strengths and difficulties questionnaire: a research note. J Child Psychol Psychiatry. 1997;38:581–6.\nSparrow, Sara S, Domenic V. Cicchetti and David Balla. “Vineland Adaptive Behavior Scales, Second Edition.” (2012).\nLeger JB. Blockmodels: A R-package for estimating in Latent Block Model and Stochastic Block Model, with various probability functions, with or without covariates. arXiv preprint arXiv:1602.07587. 2016.\nHollingshed, Amanda. “Four factor index of social status.” (1975).\nMaenner MJ, Shaw KA, Bakian AV, Bilder DA, Durkin MS, Esler A, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2018. MMWR Surveill Summ. 2021;70:1–16.\nDanielson ML, Bitsko RH, Ghandour RM, Holbrook JR, Kogan MD, Blumberg SJ. Prevalence of parent-reported ADHD diagnosis and associated treatment among U.S. children and adolescents, 2016. J Clin Child Adolesc Psychol. 2018;47:199–212.",{"VI":1078,"EN":1079},"Các rối loạn về số lượng gen lặp lại mang lại nguy cơ đáng kể cho tâm thần học. Tuy nhiên, việc hiểu rõ nguy cơ này bị hạn chế bởi các biểu hiện phức tạp mà thách thức các hệ thống chẩn đoán cổ điển. Trong nghiên cứu này, chúng tôi trình bày một loạt phương pháp phân tích tổng quát để giải mã sự phức tạp lâm sàng này, được minh họa thông qua ứng dụng cho hội chứng XYY. Chúng tôi thu thập các số liệu cao chiều về tâm thần học ở 64 cá nhân mắc hội chứng XYY và 60 đối chứng XY, cùng với các dữ liệu chẩn đoán dựa trên phỏng vấn trong nhóm XYY. Chúng tôi cung cấp mô tả chẩn đoán toàn diện đầu tiên về bệnh tâm thần trong hội chứng XYY và cho thấy mối quan hệ giữa bệnh chẩn đoán với chức năng, triệu chứng dưới ngưỡng và thiên lệch thu thập thông tin. Tiếp theo, chúng tôi lập bản đồ các yếu tố dễ bị tổn thương và sự phục hồi qua 67 khía cạnh hành vi trước khi vay mượn các kỹ thuật từ khoa học mạng để giải quyết kiến trúc trung gian của các khía cạnh này và liên kết với các kết quả chức năng có thể quan sát được. Việc mang theo một nhiễm sắc thể Y bổ sung làm tăng nguy cơ cho nhiều chẩn đoán tâm thần khác nhau, với triệu chứng dưới ngưỡng có tác động lâm sàng đáng kể. Tỷ lệ cao nhất được thấy với các rối loạn phát triển thần kinh và rối loạn cảm xúc. Một giới hạn thấp hơn 25% những người mang gen không có chẩn đoán nào. Phân tích theo chiều của 67 thang đo chi tiết hồ sơ tâm thần học trong XYY, tồn tại khi kiểm soát thiên lệch thu thập thông tin, xác định các lĩnh vực chú ý và xã hội là bị ảnh hưởng nhất, và phản bác các mối liên hệ có tính kỳ thị trong lịch sử giữa XYY và bạo lực. Mô hình mạng nén tất cả các thang đo triệu chứng đã đo thành 8 mô-đun có liên kết khác biệt với khả năng nhận thức, chức năng thích ứng và căng thẳng của người chăm sóc. Các mô-đun trung tâm cung cấp các đại diện hiệu quả cho toàn bộ mạng lưới triệu chứng. Nghiên cứu này phân tích kiểu hình hành vi phức tạp của hội chứng XYY bằng cách áp dụng các phương pháp phân tích mới và tổng quát cho dữ liệu tâm thần học có kiểu hình sâu trong các rối loạn di truyền thần kinh.","Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. We gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes. Carriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of \u003C 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network. 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Los Angeles: Western Psychological Services; 2002.\nFydrich T, Chambless DL, Perry KJ, Buergener F, Beazley MB. Behavioral assessment of social performance: a rating system for social phobia. Behav Res Ther. 1998;36:995–1010.\nConger JC, Farrell AD. Behavioral components of heterosocial skills. Behav Ther. 1981;12:41–55.\nGlass CR, Arnkoff DB. Behavioral assessment of social anxiety and social phobia. Clin Psychol Rev. 1989;9:75–90.\nGlennon B, Weisz JR. An observational approach to the assessment of anxiety in young children. J Consult Clin Psychol. 1978;46:1246–57.\nMillbrook JM, Farrell AD, Wallander JL, Curran JP. Behavioral components of social skills: a look at subject and confederate behaviors. Behavioural Assessment. 1986;8:203–20.\nMonti PM, Boice R, Fingeret AL, Zwick WR, Kolko D, Munro S, Grunberger A. Midi-level measurement of social anxiety in psychiatric and non-psychiatric samples. Behavior Research and Therapy. 1984;22:651–60.\nTrower P, Yardley K, Bryant BM, Shaw P. The treatment of social failure: a comparison of anxiety-reduction and skills acquisition procedures on two social problems. Behav Modif. 1978;2:41–60.\nMartin N, Oliver C, Hall S. Obswin: software for the collection and analysis of observational data. Birmingham: University of Birmingham; 1988.\nAltman DG. Practical statistics for medical research. London: Chapman & Hall; 1991.\nKline AD, Grados M, Sponseller P, Levy HP, Balagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz ID, Kimball A, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:248–60.",{"EN":1666},"Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning. A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22.16; SD = 8.81) and a comparable group of individuals with Down syndrome (DS; n = 20; % male = 35; mean age = 24.35; SD = 5.97). Behaviours indicative of social anxiety were coded. The Behavior Rating Inventory of Executive Function-Preschool version, an informant measure of executive function, was completed by participants’ caregivers. Significantly less verbalisation was observed in the CdLS group than the DS group in conditions requiring the initiation of speech. In the CdLS group, impairments in verbalisation were not associated with a greater degree of intellectual disability but were significantly correlated with impairments in both planning and working memory. This association was not evident in the DS group. Adolescents and adults with CdLS have a specific difficulty with the initiation of speech when social demands are placed upon them. This impairment in verbalisation may be underpinned by specific cognitive deficits, although further research is needed to investigate this fully.",{"EN":1668},"An experimental study of executive function and social impairment in Cornelia de Lange syndrome",{"VOID":1670},"10.1186\u002Fs11689-017-9213-x","http:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-017-9213-x",[1673,1688,1712,1724,1748],{"id":1674,"sortIndex":203,"researcher":18,"roles":1675,"affiliations":1676,"properties":1685},"a654efc9-a589-4f7e-9c9e-0a91201bcaf8",[205],[1677],{"id":18,"sortIndex":19,"affiliation":1678,"properties":18},{"id":1679,"createTime":1680,"updateTime":1680,"relativeEntities":1681,"slug":18,"properties":1682,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"9bb92769-4bc0-44b8-9fbc-9cde6689c5e0","2024-01-10T08:10:47.339+00:00",[],{"title":1683},{"VI":1684},"Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, UK",{"title":1686},{"VI":1687},"Donna Reid",{"id":1689,"sortIndex":19,"researcher":18,"roles":1690,"affiliations":1691,"properties":1709},"167e7388-cec0-4743-96cb-2c61339a0a2e",[205],[1692,1704],{"id":1693,"sortIndex":283,"affiliation":1694,"properties":1703},"dd60de90-f72a-4ca8-9952-4c8a5202e831",{"id":1695,"createTime":1696,"updateTime":1697,"relativeEntities":1698,"slug":1699,"properties":1700,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"f5218afb-973a-42e5-8081-a342e6c3b5bb","2024-01-10T08:10:47.309+00:00","2025-02-05T17:39:37.640+00:00",[],"Derby-Royal-Hospital-Derby-UK",{"title":1701},{"VI":1702},"Derby Royal Hospital, Derby, UK",{},{"id":18,"sortIndex":19,"affiliation":1705,"properties":18},{"id":1679,"createTime":1680,"updateTime":1680,"relativeEntities":1706,"slug":18,"properties":1707,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":1708},{"VI":1684},{"title":1710},{"VI":1711},"Lisa Nelson",{"id":1713,"sortIndex":220,"researcher":18,"roles":1714,"affiliations":1715,"properties":1721},"31877324-6e5c-4c90-9645-dca68ab831cd",[205],[1716],{"id":18,"sortIndex":19,"affiliation":1717,"properties":18},{"id":1679,"createTime":1680,"updateTime":1680,"relativeEntities":1718,"slug":18,"properties":1719,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":1720},{"VI":1684},{"title":1722},{"VI":1723},"Chris Oliver",{"id":1725,"sortIndex":136,"researcher":18,"roles":1726,"affiliations":1727,"properties":1745},"44df9d60-ec5b-4e5c-bc76-28e21d30f823",[205],[1728,1740],{"id":1729,"sortIndex":283,"affiliation":1730,"properties":1739},"be21c723-7df1-4696-8939-52bc5b99929d",{"id":1731,"createTime":1732,"updateTime":1733,"relativeEntities":1734,"slug":1735,"properties":1736,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"2a958da9-291c-4531-8983-3daee932d4f2","2024-01-26T15:59:27.680+00:00","2025-02-09T23:40:56.544+00:00",[],"Institute-of-Cognitive-Neuroscience-University-College-London-London-UK",{"title":1737},{"VI":1738},"Institute of Cognitive Neuroscience, University College London, London, UK",{},{"id":18,"sortIndex":19,"affiliation":1741,"properties":18},{"id":1679,"createTime":1680,"updateTime":1680,"relativeEntities":1742,"slug":18,"properties":1743,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":1744},{"VI":1684},{"title":1746},{"VI":1747},"Joanna Moss",{"id":1749,"sortIndex":283,"researcher":18,"roles":1750,"affiliations":1751,"properties":1767},"d502985e-e774-4863-b017-d22a94086667",[205],[1752,1762],{"id":1753,"sortIndex":283,"affiliation":1754,"properties":1761},"f79603a3-d95c-411d-a507-74531ee7da89",{"id":1755,"createTime":1756,"updateTime":1756,"relativeEntities":1757,"slug":18,"properties":1758,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"de003f15-c6dc-4a6d-9dca-fc9e900bc752","2024-02-21T03:58:59.726+00:00",[],{"title":1759},{"VI":1760},"Faculty of Health and Life Sciences, Coventry University, Coventry, UK",{},{"id":18,"sortIndex":19,"affiliation":1763,"properties":18},{"id":1679,"createTime":1680,"updateTime":1680,"relativeEntities":1764,"slug":18,"properties":1765,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":1766},{"VI":1684},{"title":1768},{"VI":1769},"Hayley Crawford",{"url":1671,"publisher":1771,"properties":1798},{"id":6,"createTime":7,"updateTime":8,"relativeEntities":1772,"slug":10,"properties":1773,"entityType":16,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19,"subjectFields":1776,"manageAffiliations":1777,"indexDatabases":1778,"url":18,"thumbnailPath":18,"statistic":1793,"gsStatistic":18,"type":18,"analyzePriority":18},[],{"eissn":1774,"title":1775},{"VOID":13},{"EN":15},[],[],[1779,1786],{"id":78,"indexDatabase":1780,"url":91,"indexYears":92,"academicFieldIds":1785,"indexDatabaseRanking":98},{"id":80,"createTime":81,"updateTime":82,"relativeEntities":1781,"label":1782,"description":1783,"key":88,"publicationTags":1784,"standard":18},[],{"EN":85,"VI":85},{"EN":85,"VI":87},[90],[94,95,96,97],{"id":100,"indexDatabase":1787,"url":115,"indexYears":18,"academicFieldIds":1792,"indexDatabaseRanking":18},{"id":102,"createTime":103,"updateTime":104,"relativeEntities":1788,"label":1789,"description":1790,"key":111,"publicationTags":1791,"standard":18},[],{"EN":107,"VI":107},{"VI":109,"EN":110},[113,114],[117,118],{"impactFactor":19,"impactFactorByYear":1794,"i10Index":132,"i10IndexLast5Year":133,"totalPublication":134,"totalPublicationByYear":1795,"totalCitation":148,"totalCitationByYear":1796,"totalCitationPerPublication":163,"totalCitationPerPublicationByYear":1797,"hindexLast5Year":142,"hindex":142},{"2012":121,"2013":122,"2014":123,"2015":124,"2016":125,"2017":126,"2018":127,"2019":128,"2020":129,"2021":130,"2022":123,"2023":131},{"2008":136,"2009":137,"2010":138,"2011":139,"2012":137,"2013":140,"2014":141,"2015":140,"2016":142,"2017":143,"2018":141,"2019":144,"2020":142,"2021":145,"2022":146,"2023":139,"2024":147},{"2009":150,"2011":151,"2012":152,"2013":153,"2014":154,"2015":155,"2016":156,"2017":157,"2018":158,"2019":159,"2020":160,"2021":161,"2022":162},{"2009":165,"2011":166,"2012":167,"2013":168,"2014":169,"2015":170,"2016":171,"2017":172,"2018":173,"2019":174,"2020":175,"2021":176,"2022":123},{"volume":1799,"pages":1801},{"VOID":1800},"9",{"VOID":1802},"1-15","2017-09-11",2017,{"id":1806,"createTime":1807,"updateTime":1808,"relativeEntities":1809,"slug":1810,"properties":1811,"entityType":196,"verifyStatus":197,"verifyTime":1808,"verifyNote":198,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19,"primaryUrl":1822,"fullTextUrl":18,"authors":1823,"publicationType":357,"publisherRelationship":1918,"citationCount":18,"citationInfo":18,"publishDate":1946,"publishYear":1804,"citationAnalyzeStatus":17,"lastCitationAnalyze":18,"indexDatabases":18,"openAccess":18,"references":18,"isForceReanalyzing":393},"240b6dee-4b3c-45e3-b111-d6114e930e9a","2024-04-08T16:29:30.973+00:00","2025-02-19T23:35:27.276+00:00",[],"Prospective-study-of-autism-phenomenology-and-the-behavioural-phenotype-of-Phelan-McDermid-syndrome-comparison-to-fragile-X-syndrome-Down-syndrome-and-idiopathic-autism-spectrum-disorder",{"references":1812,"keywords":1814,"abstract":1816,"title":1818,"doi":1820},{"VOID":1813},"Phelan MC. Deletion 22q13. 3 syndrome. Orphanet J Rare Dis. 2008;3:7.\nPhelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, et al. 22q13 deletion syndrome. Am J Med Genet. 2001;101:91–9.\nDurand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2006;39:25–7.\nPhelan K, McDermid HE. The 22q13. 3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol. 2011;2:186–201.\nWilson HL, Wong ACC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, et al. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3\u002FPROSAP2 in the major neurological symptoms. J Med Genet. 2003;40:575–84.\nMonteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017;18:147–57.\nYi F, Danko T, Botelho SC, Patzke C, Pak C, Wernig M, Südhof TC. Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons. Science. 2016;352:aaaf2669-1-10.\nLuciani JJ, De Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, et al. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet. 2003;40:690–6.\nHavens JM, Visootsak J, Phelan MC, Graham JM. 22q13 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr. 2004;43:43–53.\nZwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM. Developmental phenotype in Phelan-McDermid (22q13. 3 deletion) syndrome: a systematic and prospective study in 34 children. J Neurodev Disord. 2016;8:1.\nShaw SR, Rahman A, Sharma A. Behavioral profiles in Phelan-McDermid syndrome: focus on mental health. J Ment Health Res Intellect Disabil. 2011;4:1–18.\nJeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J. Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet Part A. 2005;137:139–47.\nVerhoeven WM, Egger JI, Willemsen MH, de Leijer GJ, Kleefstra T. Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? Neuropsychiatr Dis Treat. 2012;8:175.\nSoorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013;4:18.\nKolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann LJ. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6:39.\nBill BR, Geschwind DH. Genetic advances in autism: heterogeneity and convergence on shared pathways. Curr Opin Genet Dev. 2009;19:271–8.\nUchino S, Waga C. SHANK3 as an autism spectrum disorder-associated gene. Brain and Development. 2013;35:106–10.\nLeblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D. Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014;10:e1004580.\nLord C, Risi S, Lambrecht L, Cook Jr EH, Leventhal BL, DiLavore PC, et al. The autism diagnostic observation schedule—generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30:205–23.\nRutter M, Le Couteur A, Lord C. Autism diagnostic interview-revised. Los Angeles: Western Psychological Services; 2003.\nSkuse DH. Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet. 2007;23:387–95.\nMoss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res. 2009;53:852–73.\nRichards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry. 2015;2:909–16.\nMoss J, Oliver C, Nelson L, Richards C, Hall S. Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and fragile X syndromes. Am J Intellect Dev Disabil. 2013;118:55–73.\nMoss J, Howlin P, Magiati I, Oliver C. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. J Child Psychol Psychiatry. 2012;53:883–91.\nPhilippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, et al. Neurobehavioral profile and brain imaging study of the 22q13. 3 deletion syndrome in childhood. Pediatrics. 2008;122:e376–82.\nKushlick A, Blunden R, Cox G. A method of rating behavior characteristics for use in large scale surveys of mental handicap. Psychol Med. 1973;3:466–78.\nBerument SK, Rutter M, Lord C, Pickles A, Bailey A. Autism Screening Questionnaire: diagnostic validity. Br J Psychiatry. 1999;175:444–51.\nRutter M, Bailey A, Lord C, Berument SK. The social communication questionnaire. Los Angeles: Western Psychological Services; 2003.\nBölte S, Poustka F. The relation between general cognitive level and adaptive behavior domains in individuals with autism with and without co-morbid mental retardation. Child Psychiatry Hum Dev. 2002;33:165–72.\nKanne SM, Gerber AJ, Quirmbach LM, Sparrow SS, Cicchetti DV, Saulnier CA. The role of adaptive behavior in autism spectrum disorders: implications for functional outcome. J Autism Dev Disord. 2011;41:1007–18.\nPerry A, Flanagan HE, Geier JD, Freeman NL. Brief report: the Vineland Adaptive Behavior Scales in young children with autism spectrum disorders at different cognitive levels. J Autism Dev Disord. 2009;39:1066–78.\nPalmer J, Jenkins J. The Wessex behavior rating system for mentally-handicapped people—reliability study. Brit. J Ment Subnorm. 1982;28:88–96.\nRoss E, Oliver C. Mood, interest and pleasure and challenging behaviour. J Intellect Disabil Res. 2002;46:191–7.\nBurbidge C, Oliver C, Moss J, Arron K, Berg K, Furniss F, et al. The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability. J Intellect Disabil Res. 2010;54:1078–92.\nMoss J, Oliver C, Arron K, Burbidge C, Berg K. The prevalence and phenomenology of repetitive behavior in genetic syndromes. J Autism Dev Disord. 2009;39:572–88.\nHowlin P, Karpf J. Using the social communication questionnaire to identify ‘autistic spectrum’ disorders associated with other genetic conditions: findings from a study of individuals with Cohen syndrome. Autism. 2004;8:175–82.\nCharman T, Baird G, Simonoff E, Loucas T, Chandler S, Meldrum D, Pickles A. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. Br J Psychiatry. 2007;191:554–9.\nOliver C, Berg K, Moss J, Arron K, Burbidge C. Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity. J Autism Dev Disord. 2011;41:1019–32.\nBreau L, Camfield CS, McGrath PJ, Finley A. The incidence of pain in children with severe cognitive impairments. Arch Pediatr Adolesc Med. 2003;157:1219–26.\nCarr EG, JS O-DS. Physical illness, pain and problem behavior in minimally verbal people with developmental disabilities. J Autism Dev Disord. 2007;37:413–24.\nLuzzani S, Macchini F, Valade A, Milani D, Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet Part A. 2003;119A:283–7.\nBariselli S, Tzanoulinou S, Glangetas C, Prévost-Solié C, Pucci L, Viguié J, et al. SHANK3 controls maturation of social reward circuits in the VTA. Nat Neurosci. 2016;19:926–34.\nCostales JL, Kolevzon A. Phelan–McDermid syndrome and SHANK3: implications for treatment. Neurotherapeutics. 2015;12:620–30.",{"EN":1815},"",{"EN":1817},"The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS.",{"EN":1819},"Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder",{"VOID":1821},"10.1186\u002Fs11689-017-9217-6","https:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-017-9217-6",[1824,1849,1861,1878,1890,1901],{"id":1825,"sortIndex":283,"researcher":18,"roles":1826,"affiliations":1827,"properties":1846},"557d9082-a841-4fdf-8a1e-ea267de87dcf",[205],[1828,1837],{"id":18,"sortIndex":19,"affiliation":1829,"properties":18},{"id":1830,"createTime":1831,"updateTime":1831,"relativeEntities":1832,"slug":1833,"properties":1834,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"293738bd-b8c4-4541-9eef-474d04a50224","2024-04-08T16:29:31.465+00:00",[],"Cerebra-Centre-for-Neurodevelopmental-Disorders-School-of-Psychology-University-of-Birmingham-Birmingham-UK",{"title":1835},{"VI":1836},"Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK",{"id":18,"sortIndex":19,"affiliation":1838,"properties":18},{"id":1839,"createTime":1840,"updateTime":1840,"relativeEntities":1841,"slug":1842,"properties":1843,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"a97b26c9-6615-4fc6-97f6-788092d8616f","2024-04-08T16:29:31.482+00:00",[],"Hertfordshire-Partnership-University-Foundation-Trust-West-Community-Assessment-and-Treatment-Service-St-Paul-s-Hemel-Hempstead-UK",{"title":1844},{"VI":1845},"Hertfordshire Partnership University Foundation Trust, West Community Assessment and Treatment Service, St. Paul’s, Hemel Hempstead, UK",{"title":1847},{"VI":1848},"Laurie Powis",{"id":1850,"sortIndex":147,"researcher":18,"roles":1851,"affiliations":1852,"properties":1858},"0f310232-11d8-4055-8858-50ec2a3fec17",[205],[1853],{"id":18,"sortIndex":19,"affiliation":1854,"properties":18},{"id":1830,"createTime":1831,"updateTime":1831,"relativeEntities":1855,"slug":1833,"properties":1856,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":1857},{"VI":1836},{"title":1859},{"VI":1860},"Christopher 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M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007;56:422–37.\nJohnson CM, Cui N, Zhong W, Oginsky MF, Jiang C. Breathing abnormalities in a female mouse model of Rett syndrome. J Physiol Sci. 2015;65:451–9.\nLioy DT, Wu WW, Bissonnette JM. Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome. Auton Neurosci. 2011;161:55–62.\nTaneja P, Ogier M, Brooks-Harris G, Schmid DA, Katz DM, Nelson SB. Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndrome. J Neurosci. 2009;29:12187–95.\nRamirez JM, Ward CS, Neul JL. Breathing challenges in Rett syndrome: lessons learned from humans and animal models. Respir Physiol Neurobiol. 2013;189:280–7.\nZhang X, Su J, Cui N, Gai H, Wu Z, Jiang C. The disruption of central CO2 chemosensitivity in a mouse model of Rett syndrome. Am J Physiol Cell Physiol. 2011;301:C729–38.\nZhang X, Cui N, Wu Z, Su J, Tadepalli JS, Sekizar S, Jiang C. Intrinsic membrane properties of locus coeruleus neurons in MECP2-null mice. Am J Physiol Cell Physiol. 2010;298:C635–46.\nJin X, Zhong W, Jiang C. Time-dependent modulation of GABA(A)-ergic synaptic transmission by allopregnanolone in locus coeruleus neurons of MECP2-null mice. Am J Physiol Cell Physiol. 2013;305:C1151–60.\nJin X, Cui N, Zhong W, Jin XT, Jiang C. GABAergic synaptic inputs of locus coeruleus neurons in wild-type and MECP2-null mice. Am J Physiol Cell Physiol. 2013;304:C844–57.\nOginsky MF, Cui N, Zhong W, Johnson CM, Jiang C. Alterations in the cholinergic system of brain stem neurons in a mouse model of Rett syndrome. Am J Physiol Cell Physiol. 2014;307:C508–20.\nMedrihan L, Tantalaki E, Aramuni G, Sargsyan V, Dudanova I, Missler M, Zhang W. Early defects of GABAergic synapses in the brain stem of a MECP2 mouse model of Rett syndrome. J Neurophysiol. 2008;99:112–21.\nZhong W, Cui N, Jin X, Oginsky MF, Wu Y, Zhang S, Bondy B, Johnson CM, Jiang C. Methyl CpG binding protein 2 gene disruption augments tonic currents of gamma-aminobutyric acid receptors in locus coeruleus neurons: impact on neuronal excitability and breathing. J Biol Chem. 2015;290:18400–11.\nRoth T, Lines C, Vandormael K, Ceesay P, Anderson D, Snavely D. Effect of gaboxadol on patient-reported measures of sleep and waking function in patients with Primary Insomnia: results from two randomized, controlled, 3-month studies. J Clin Sleep Med. 2010;6:30–9.\nKjaer M, Nielsen H. The analgesic effect of the GABA-agonist THIP in patients with chronic pain of malignant origin. A phase-1-2 study. Br J Clin Pharmacol. 1983;16:477–85.\nMaguire J, Mody I. GABA(A)R plasticity during pregnancy: relevance to postpartum depression. Neuron. 2008;59:207–13.\nWu Y, Zhong W, Cui N, Johnson CM, Xing H, Zhang S, Jiang C. Characterization of Rett syndrome-like phenotypes in MECP2-knockout rats. J Neurodev Disord. 2016;8:23.\nSamaco RC, Mandel-Brehm C, McGraw CM, Shaw CA, McGill BE, Zoghbi HY. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012;44:206–11.\nKerr B, Alvarez-Saavedra M, Saez MA, Saona A, Young JI. Defective body-weight regulation, motor control and abnormal social interactions in MECP2 hypomorphic mice. Hum Mol Genet. 2008;17:1707–17.\nViemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, Pena F, Zanella S, Bevengut M, Barthelemy-Requin M, Herzing LB, et al. MECP2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci. 2005;25:11521–30.\nWesson DR, Camber S, Harkey M, Smith DE. Diazepam and desmethyldiazepam in breast milk. J Psychoactive Drugs. 1985;17:55–6.\nDusci LJ, Good SM, Hall RW, Ilett KF. Excretion of diazepam and its metabolites in human milk during withdrawal from combination high dose diazepam and oxazepam. Br J Clin Pharmacol. 1990;29:123–6.\nBorgatta L, Jenny RW, Gruss L, Ong C, Barad D. Clinical significance of methohexital, meperidine, and diazepam in breast milk. J Clin Pharmacol. 1997;37:186–92.\nGaboxadol hydrobromide [http:\u002F\u002Fchem.sis.nlm.nih.gov\u002Fchemidplus\u002Frn\u002F65202-63-3]. Accessed 8 Oct 2016.\nEgawa K, Kitagawa K, Inoue K, Takayama M, Takayama C, Saitoh S, Kishino T, Kitagawa M, Fukuda A. Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome. Sci Transl Med. 2012;4:163ra157.\nOlmos-Serrano JL, Corbin JG, Burns MP. The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Dev Neurosci. 2011;33:395–403.\nOlmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci. 2010;30:9929–38.\nBoyle J, Danjou P, Alexander R, Calder N, Gargano C, Agrawal N, Fu I, McCrea JB, Murphy MG. Tolerability, pharmacokinetics and night-time effects on postural sway and critical flicker fusion of gaboxadol and zolpidem in elderly subjects. Br J Clin Pharmacol. 2009;67:180–90.\nKesisoglou F, Balakrishnan A, Manser K. Utility of PBPK absorption modeling to guide modified release formulation development of gaboxadol, a highly soluble compound with region-dependent absorption. J Pharm Sci. 2016;105:722-28.\nCremers T, Ebert B. Plasma and CNS concentrations of Gaboxadol in rats following subcutaneous administration. Eur J Pharmacol. 2007;562:47–52.\nSchultz B, Aaes-Jorgensen T, Bogeso KP, Jorgensen A. Preliminary studies on the absorption, distribution, metabolism, and excretion of THIP in animal and man using 14C-labelled compound. Acta Pharmacol Toxicol (Copenh). 1981;49:116–24.\nKatz DM, Dutschmann M, Ramirez JM, Hilaire G. Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth. Respir Physiol Neurobiol. 2009;168:101–8.\nZoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM. Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med. 1985;313:921–4.\nRoux JC, Dura E, Moncla A, Mancini J, Villard L. Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci. 2007;25:1915–22.\nChandler DJ. Evidence for a specialized role of the locus coeruleus noradrenergic system in cortical circuitries and behavioral operations. Brain Res. 1641;2016:197–206.\nZhang X, Su J, Rojas A, Jiang C. Pontine norepinephrine defects in MECP2-null mice involve deficient expression of dopamine beta-hydroxylase but not a loss of catecholaminergic neurons. Biochem Biophys Res Commun. 2010;394:285–90.\nRoux JC, Panayotis N, Dura E, Villard L. Progressive noradrenergic deficits in the locus coeruleus of MECP2 deficient mice. J Neurosci Res. 2010;88:1500–9.\nKow LM, Pfaff DW. Responses of ventromedial hypothalamic neurons in vitro to norepinephrine: dependence on dose and receptor type. Brain Res. 1987;413:220–8.\nBrickley SG, Mody I. Extrasynaptic GABA(A) receptors: their function in the CNS and implications for disease. Neuron. 2012;73:23–34.\nFarrant M, Nusser Z. Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors. Nat Rev Neurosci. 2005;6:215–29.\nWhissell PD, Lecker I, Wang DS, Yu J, Orser BA. Altered expression of deltaGABAA receptors in health and disease. Neuropharmacology. 2015;88:24–35.\nLee CY, Liou HH. GABAergic tonic inhibition is regulated by developmental age and epilepsy in the dentate gyrus. Neuroreport. 2013;24:515–9.\nChen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MECP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015;112:5509–14.\nSigel E, Steinmann ME. Structure, function, and modulation of GABA(A) receptors. J Biol Chem. 2012;287:40224–31.\nMortensen M, Ebert B, Wafford K, Smart TG. Distinct activities of GABA agonists at synaptic- and extrasynaptic-type GABAA receptors. J Physiol. 2010;588:1251–68.\nKorsgaard S, Casey DE, Gerlach J, Hetmar O, Kaldan B, Mikkelsen LB. The effect of tetrahydroisoxazolopyridinol (THIP) in tardive dyskinesia: a new gamma-aminobutyric acid agonist. Arch Gen Psychiatry. 1982;39:1017–21.\nBraat S, Kooy RF. Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials. Neuropharmacology. 2015;88:48–54.\nZhang W, Peterson M, Beyer B, Frankel WN, Zhang ZW. Loss of MECP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures. J Neurosci. 2014;34:2754–63.\nSchwarz LA, Miyamichi K, Gao XJ, Beier KT, Weissbourd B, DeLoach KE, Ren J, Ibanes S, Malenka RC, Kremer EJ, Luo L. Viral-genetic tracing of the input-output organization of a central noradrenaline circuit. Nature. 2015;524:88–92.\nLee V, Maguire J. The impact of tonic GABAA receptor-mediated inhibition on neuronal excitability varies across brain region and cell type. Front Neural Circuits. 2014;8:3.\nWeng SJ, Wiggins JL, Peltier SJ, Carrasco M, Risi S, Lord C, Monk CS. Alterations of resting state functional connectivity in the default network in adolescents with autism spectrum disorders. Brain Res. 2010;1313:202–14.\nSmrt RD, Pfeiffer RL, Zhao X. Age-dependent expression of MECP2 in a heterozygous mosaic mouse model. Hum Mol Genet. 2011;20:1834–43.\nYoung JI, Zoghbi HY. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004;74:511–20.\nWither RG, Lang M, Zhang L, Eubanks JH. Regional MECP2 expression levels in the female MECP2-deficient mouse brain correlate with specific behavioral impairments. Exp Neurol. 2013;239:49–59.\nMeziane H, Ouagazzal AM, Aubert L, Wietrzych M, Krezel W. Estrous cycle effects on behavior of C57BL\u002F6 J and BALB\u002FcByJ female mice: implications for phenotyping strategies. Genes Brain Behav. 2007;6:192–200.\nUre K, Lu H, Wang W, Ito-Ishida A, Wu Z, He LJ, Sztainberg Y, Chen W, Tang J, Zoghbi HY. Restoration of MECP2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016;5:e14198.\nBangasser DA, Zhang X, Garachh V, Hanhauser E, Valentino RJ. Sexual dimorphism in locus coeruleus dendritic morphology: a structural basis for sex differences in emotional arousal. Physiol Behav. 2011;103:342–51.\nJin X, Li S, Bondy B, Zhong W, Oginsky MF, Wu Y, Johnson CM, Zhang S, Cui N, Jiang C. Identification of a group of GABAergic neurons in the dorsomedial area of the locus coeruleus. PLoS One. 2016;11:e0146470.",{"EN":1957},"Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies indicate that augmenting synaptic GABA receptors (GABAARs) can alleviate RTT-like symptoms in mice. In addition to the synaptic GABAARs, there is a group of GABAARs found outside the synaptic cleft with the capability to produce sustained inhibition, which may be potential therapeutic targets for the control of neuronal excitability in RTT. Wild-type and MECP2-null mice were randomly divided into four groups, receiving the extrasynaptic GABAAR agonist 4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridin-3-ol hydrochloride (THIP) and vehicle control, respectively. Low-dose THIP was administered to neonatal mice through lactation. RTT-like symptoms including lifespan, breathing, motor function, and social behaviors were studied when mice became mature. Changes in neuronal excitability and norepinephrine biosynthesis enzyme expression were studied in electrophysiology and molecular biology. With no evident sedation and other adverse side effects, early-life exposure to THIP extended the lifespan, alleviated breathing abnormalities, enhanced motor function, and improved social behaviors of MECP2-null mice. Such beneficial effects were associated with stabilization of locus coeruleus neuronal excitability and improvement of norepinephrine biosynthesis enzyme expression. THIP treatment in early lives might be a therapeutic approach to RTT-like symptoms in MECP2-null mice and perhaps in people with RTT as well.",{"EN":1959},"Effects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome",{"VOID":1961},"10.1186\u002Fs11689-016-9169-2","https:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-016-9169-2",[1964,1976,1987,1998,2009,2020,2031],{"id":1965,"sortIndex":283,"researcher":18,"roles":1966,"affiliations":1967,"properties":1973},"f72cc023-1b0a-4e44-8f86-b09f9ac289a9",[205],[1968],{"id":18,"sortIndex":19,"affiliation":1969,"properties":18},{"id":950,"createTime":951,"updateTime":952,"relativeEntities":1970,"slug":954,"properties":1971,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},[],{"title":1972},{"VI":957},{"title":1974},{"VI":1975},"Christopher Mychal 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Brain Imaging Behav. 2016; \n                    https:\u002F\u002Fdoi.org\u002F10.1007\u002Fs11682-016-9641-3\n                    \n                  .\ncitation_journal_title=Neurology; citation_title=The nature and frequency of cognitive deficits in children with neurofibromatosis type 1; citation_author=SL Hyman, A Shores, KN North; citation_volume=65; citation_publication_date=2005; citation_pages=1037-1044; citation_doi=10.1212\u002F01.wnl.0000179303.72345.ce; citation_id=CR10\ncitation_journal_title=PLoS One; citation_title=Peripheral attentional targets under covert attention lead to paradoxically enhanced alpha desynchronization in neurofibromatosis type 1; citation_author=G Silva, MJ Ribeiro, GN Costa, IR Violante, F Ramos, J Saraiva; citation_volume=11; citation_publication_date=2016; citation_pages=e0148600; citation_doi=10.1371\u002Fjournal.pone.0148600; citation_id=CR11\nBluschke A, Hagen M Von Der, Papenhagen K, Roessner V, Beste C. 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Praxis skills and executive function in children with neurofibromatosis type 1. Appl Neuropsychol Child. 2017:1–11. \n                    https:\u002F\u002Fdoi.org\u002F10.1080\u002F21622965.2017.1295856\n                    \n                  .\ncitation_journal_title=Dev Neuropsychol; citation_title=Cognitive and motor control in neurofibromatosis type I: influence of maturation and hyperactivity-inattention; citation_author=S Huijbregts, H Swaab, L De Sonneville; citation_volume=35; citation_publication_date=2010; citation_pages=737-751; citation_doi=10.1080\u002F87565641.2010.508670; citation_id=CR41\ncitation_journal_title=Exp Neurol; citation_title=The ups and downs of beta oscillations in sensorimotor cortex; citation_author=BE Kilavik, M Zaepffel, A Brovelli, WA Mackay, A Riehle; citation_volume=245; citation_publication_date=2013; citation_pages=15-26; citation_doi=10.1016\u002Fj.expneurol.2012.09.014; citation_id=CR42\ncitation_journal_title=Int J Psychophysiol; citation_title=Inhibition-based rhythms: experimental and mathematical observations on network dynamics; citation_author=MA Whittington, RD Traub, N Kopell, B Ermentrout, EH Buhl; citation_volume=38; citation_publication_date=2000; citation_pages=315-336; citation_doi=10.1016\u002FS0167-8760(00)00173-2; citation_id=CR43\ncitation_journal_title=Cerbellum; citation_title=The cerebellum and neural networks for rhythmic sensorimotor synchronization in the human brain; citation_author=M Molinari, MG Leggio, MH Thaut; citation_volume=6; citation_publication_date=2007; citation_pages=18-23; citation_doi=10.1080\u002F14734220601142886; citation_id=CR44\ncitation_journal_title=Neurol Rev; citation_title=Circuits and circuit disorders of the basal ganglia; citation_author=MR DeLong, T Wichmann; citation_volume=64; citation_publication_date=2007; citation_pages=20-24; citation_id=CR45\ncitation_journal_title=Cereb Cortex; citation_title=Motor control in basal ganglia circuits using fMRI and brain atlas approaches; citation_author=S Lehéricy, E Bardinet, L Tremblay, P-F Moortele, J-B Pochon, D Dormont; citation_volume=16; citation_publication_date=2006; citation_pages=149-161; citation_doi=10.1093\u002Fcercor\u002Fbhi089; citation_id=CR46\ncitation_journal_title=Am J Neuroradiol; citation_title=Functional connectivity of the human red nucleus in the brain resting state at 3T; citation_author=C Nioche, EA Cabanis, C Habas; citation_volume=30; citation_publication_date=2009; citation_pages=396-403; citation_doi=10.3174\u002Fajnr.A1375; citation_id=CR47\ncitation_journal_title=Curr Opin Neurobiol; citation_title=The neural representation of time; citation_author=RB Ivry, RMC Spencer; citation_volume=14; citation_publication_date=2004; citation_pages=225-232; citation_doi=10.1016\u002Fj.conb.2004.03.013; citation_id=CR48\ncitation_journal_title=Nat Neurosci; citation_title=Synaptic inhibition of Purkinje cells mediates consolidation of vestibulo-cerebellar motor learning; citation_author=P Wulff, M Schonewille, M Renzi, L Viltono, M Sassoe, A Badura; citation_volume=12; citation_publication_date=2009; citation_pages=1042-1052; citation_doi=10.1038\u002Fnn.2348; citation_id=CR49\ncitation_journal_title=Trends Cogn Sci; citation_title=Cognitive control, hierarchy, and the rostro–caudal organization of the frontal lobes; citation_author=D Badre; citation_volume=12; citation_publication_date=2008; citation_pages=193-200; citation_doi=10.1016\u002Fj.tics.2008.02.004; citation_id=CR50\ncitation_journal_title=J Neurosci; citation_title=The prefrontal cortex achieves inhibitory control by facilitating subcortical motor pathway connectivity; citation_author=XCL Rae, LE Hughes, MC Anderson, XB Rowe; citation_volume=35; citation_publication_date=2015; citation_pages=786-794; citation_doi=10.1523\u002FJNEUROSCI.3093-13.2015; citation_id=CR51",{"EN":2085},"Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans. We found that task performance was significantly different between NF1 and controls, the latter showing higher tapping time precision. The time-frequency patterns at the beta sub-band (20–26 Hz) mirrored the behavioural modulations, with similar cyclic synchronization\u002Fdesynchronization patterns for both groups. fMRI results showed a higher recruitment of the extrapyramidal motor system (putamen, cerebellum and red nucleus) in the control group during the fastest pacing condition. The present study demonstrated impaired precision in rhythmic pacing behaviour in NF1 as compared with controls. We found a decreased recruitment of the cerebellum, a structure where inhibitory interneurons are essential regulators of rhythmic synchronization, and in deep brain regions pivotally involved in motor pacing. Our findings shed light into the neural underpinnings of motor timing deficits in NF1.",{"EN":2087},"Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI 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               \u003Cjats:title>Background\u003C\u002Fjats:title>\n                \u003Cjats:p>\u003Cjats:italic>Regulator of calcineurin 1\u003C\u002Fjats:italic> (\u003Cjats:italic>RCAN1\u003C\u002Fjats:italic>) is overexpressed in Down syndrome (DS), but RCAN1 levels are also increased in Alzheimer’s disease (AD) and normal aging. AD is highly comorbid among individuals with DS and is characterized in part by progressive neurodegeneration that resembles accelerated aging. Importantly, abnormal RCAN1 levels have been demonstrated to promote memory deficits and pathophysiology that appear symptomatic of DS, AD, and aging. Anomalous diurnal rest-activity patterns and circadian rhythm disruptions are also common in DS, AD, and aging and have been implicated in facilitating age-related cognitive decline and AD progression. However, no prior studies have assessed whether RCAN1 dysregulation may also promote the age-associated alteration of rest-activity profiles and circadian rhythms, which could in turn contribute to neurodegeneration in DS, AD, and aging.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Methods\u003C\u002Fjats:title>\n                \u003Cjats:p>The present study examined the impacts of RCAN1 deficiency and overexpression on the photic entrainment, circadian periodicity, intensity and distribution, diurnal patterning, and circadian rhythmicity of wheel running in young (3–6 months old) and aged (9–14 months old) mice of both sexes.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Results\u003C\u002Fjats:title>\n                \u003Cjats:p>We found that daily RCAN1 levels in the hippocampus and suprachiasmatic nucleus (SCN) of light-entrained young mice are generally constant and that balanced RCAN1 expression is necessary for normal circadian locomotor activity rhythms. While the light-entrained diurnal period was unaltered, RCAN1-null and RCAN1-overexpressing mice displayed lengthened endogenous (free-running) circadian periods like mouse models of AD and aging. In light-entrained young mice, RCAN1 deficiency and overexpression also recapitulated the general hypoactivity, diurnal rest-wake pattern fragmentation, and attenuated amplitudes of circadian activity rhythms reported in DS, preclinical and clinical AD, healthily aging individuals, and rodent models thereof. Under constant darkness, RCAN1-null and RCAN1-overexpressing mice displayed altered locomotor behavior indicating circadian clock dysfunction. Using the \u003Cjats:italic>Dp(16)1Yey\u002F+\u003C\u002Fjats:italic> (\u003Cjats:italic>Dp16\u003C\u002Fjats:italic>) mouse model for DS, which expresses three copies of \u003Cjats:italic>Rcan1\u003C\u002Fjats:italic>, we found reduced wheel running activity and rhythmicity in both light-entrained and free-running young \u003Cjats:italic>Dp16\u003C\u002Fjats:italic> mice like young RCAN1-overexpressing mice. Critically, these diurnal and circadian deficits were rescued in part or entirely by restoring \u003Cjats:italic>Rcan1\u003C\u002Fjats:italic> to two copies in \u003Cjats:italic>Dp16\u003C\u002Fjats:italic> mice. We also found that RCAN1 deficiency but not RCAN1 overexpression altered protein levels of the clock gene \u003Cjats:italic>Bmal1\u003C\u002Fjats:italic> in the SCN.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Conclusions\u003C\u002Fjats:title>\n                \u003Cjats:p>Collectively, this study’s findings suggest that both loss and aberrant gain of RCAN1 precipitate anomalous light-entrained diurnal and circadian activity patterns emblematic of DS, AD, and possibly aging.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>",{"EN":2244},"RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer’s disease, and normative aging",{"VOID":2246},"35610565",{"VOID":2248},"10.1186\u002Fs11689-022-09444-y",[412],"https:\u002F\u002Fjneurodevdisorders.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs11689-022-09444-y",[2252,2273,2292,2309,2324,2339,2354,2371,2386],{"id":2253,"sortIndex":346,"researcher":18,"roles":2254,"affiliations":2255,"properties":2266},"bde63cbe-ffe8-4e0a-918a-4355ab59fad2",[],[2256],{"id":2257,"sortIndex":19,"affiliation":2258,"properties":18},"16bf512a-f35b-483d-b963-ab6d09881154",{"id":2259,"createTime":2260,"updateTime":2260,"relativeEntities":2261,"slug":2262,"properties":2263,"entityType":62,"verifyStatus":17,"verifyTime":18,"verifyNote":18,"syncStatus":17,"languages":18,"translateLanguages":18,"viewCount":19},"69c1d56f-a218-45ce-9e4c-81d85b5ca494","2024-04-17T22:26:04.292+00:00",[],"Department-of-Integrative-Physiology-University-of-Colorado-Boulder-CO-80303-USA",{"title":2264},{"EN":2265},"Department of Integrative Physiology, University of Colorado, Boulder, CO, 80303, USA",{"openalex":2267,"orcid":2269,"title":2271},{"VOID":2268},"A5044565595",{"VOID":2270},"https:\u002F\u002Forcid.org\u002F0000-0002-2036-0201",{"EN":2272},"Charles A. 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