American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington (VA): American Psychiatric Publishing; 2013.

Balemans MC, Huibers MM, Eikelenboom NW, Kuipers AJ, van Summeren RC, Pijpers MM, Tachibana M, Shinkai Y, van Bokhoven H, Van der Zee CE. Reduced exploration, increased anxiety, and altered social behavior: autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice. Behav Brain Res. 2010;208:47–55.

Article  CAS  PubMed  Google Scholar 

Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, McAdam L. Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy. J Child Neurol. 2015;30:1472–82.

Article  PubMed  Google Scholar 

Belmaati Cherkaoui M, Vacca O, Izabelle C, Boulay AC, Boulogne C, Gillet C, Barnier JV, Rendon A, Cohen-Salmon M, Vaillend C. Dp71 contribution to the molecular scaffold anchoring aquaporine-4 channels in brain macroglial cells. Glia. 2021;69:954–70.

Article  CAS  PubMed  Google Scholar 

Bergstrom HC. The neurocircuitry of remote cued fear memory. Neurosci Biobehav Rev. 2016;71:409–17.

Article  PubMed  Google Scholar 

Bicks LK, Koike H, Akbarian S, Morishita H. Prefrontal Cortex and Social Cognition in Mouse and Man. Front Psychol. 2015;6:1805.

Article  PubMed  PubMed Central  Google Scholar 

Blanchard DC, Griebel G, Pobbe R, Blanchard RJ. Risk assessment as an evolved threat detection and analysis process. Neurosci Biobehav Rev. 2011;35:991–8.

Article  PubMed  Google Scholar 

Carter MD, Shah CR, Muller CL, Crawley JN, Carneiro AM, Veenstra-VanderWeele J. Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: initial studies and future directions. Autism Res. 2011;4:57–67.

Article  PubMed  PubMed Central  Google Scholar 

Chabout J, Serreau P, Ey E, Bellier L, Aubin T, Bourgeron T, Granon S. Adult male mice emit context-specific ultrasonic vocalizations that are modulated by prior isolation or group rearing environment. PLoS ONE. 2012;7: e29401.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chabout J, Cressant A, Hu X, Edeline JM, Granon S. Making choice between competing rewards in uncertain vs. safe social environment: role of neuronal nicotinic receptors of acetylcholine. Front Hum Neurosci. 2013;7:468.

Article  PubMed  PubMed Central  Google Scholar 

Chaussenot R, Amar M, Fossier P, Vaillend C. Dp71-dystrophin deficiency alters prefrontal cortex excitation-inhibition balance and executive functions. Mol Neurobiol. 2019;56:2670–84.

Article  CAS  PubMed  Google Scholar 

Chaussenot R, Edeline JM, Le Bec B, El Massioui N, Laroche S, Vaillend C. Cognitive dysfunction in the dystrophin-deficient mouse model of Duchenne muscular dystrophy: a reappraisal from sensory to executive processes. Neurobiol Learn Mem. 2015;124:111–22.

Article  CAS  PubMed  Google Scholar 

Choleris E, Gustafsson JA, Korach KS, Muglia LJ, Pfaff DW, Ogawa S. An estrogen-dependent four-gene micronet regulating social recognition: a study with oxytocin and estrogen receptor-alpha and -beta knockout mice. Proc Natl Acad Sci U S A. 2003;100:6192–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Clément Y, Le Guisquet AM, Venault P, Chapouthier G, Belzung C. Pharmacological alterations of anxious behaviour in mice depending on both strain and the behavioural situation. PLoS ONE. 2009;4: e7745.

Article  PubMed  PubMed Central  Google Scholar 

Clipperton-Allen AE, Page DT. Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests. Hum Mol Genet. 2014;23:3490–505.

Article  CAS  PubMed  Google Scholar 

Coba MP, Ramaker MJ, Ho EV, Thompson SL, Komiyama NH, Grant SGN, Knowles JA, Dulawa SC. Dlgap1 knockout mice exhibit alterations of the postsynaptic density and selective reductions in sociability. Sci Rep. 2018;8:2281.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Courchet V, Roberts AJ, Meyer-Dilhet G, Del Carmine P, Lewis TL Jr, Polleux F, Courchet J. Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice. Nat Commun. 2018;9:4289.

Article  PubMed  PubMed Central  Google Scholar 

D’Angelo MG, Lorusso ML, Civati F, Comi GP, Magri F, Del Bo R, Guglieri M, Molteni M, Turconi AC, Bresolin N. Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site. Pediatr Neurol. 2011;45:292–9.

Article  PubMed  PubMed Central  Google Scholar 

Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet. 2009;18:3779–94.

Article  CAS  PubMed  Google Scholar 

Daoud F, Candelario-Martínez A, Billard JM, Avital A, Khelfaoui M, Rozenvald Y, Guegan M, Mornet D, Jaillard D, Nudel U, Chelly J, Martínez-Rojas D, Laroche S, Yaffe D, Vaillend C. Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions. PLoS ONE. 2009;4: e6574.

Article  PubMed Central  Google Scholar 

Darmahkasih AJ, Rybalsky I, Tian C, Shellenbarger KC, Horn PS, Lambert JT, Wong BL. Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy. Muscle Nerve. 2020;61:466–74.

Article  PubMed  Google Scholar 

Desguerre I, Christov C, Mayer M, Zeller R, Becane HM, Bastuji-Garin S, Leturcq F, Chiron C, Chelly J, Gherardi RK. Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS ONE. 2009;4: e4347.

Article  PubMed  PubMed Central  Google Scholar 

Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. Am J Med Genet A. 2010;152A:1039–42.

Article  PubMed  Google Scholar 

Ferhat AT, Halbedl S, Schmeisser MJ, Kas MJ, Bourgeron T, Ey E. Behavioural phenotypes and neural circuit dysfunctions in mouse models of autism spectrum disorder. Adv Anat Embryol Cell Biol. 2017;224:85–101.

Article  PubMed  Google Scholar 

Filippo TD, Parisi L, Roccella M. Psychological aspects in children affected by Duchenne de Boulogne muscular dystrophy. Ment Illn. 2014;4: e5.

PubMed  PubMed Central  Google Scholar 

Goyenvalle A, Griffith G, Avril A, Amthor H, Garcia L. Functional correction and cognitive improvement in dystrophic mice using splice-switching tricyclo-DNA oligomers. Med Sci (Paris). 2015;31:253–6.

Article  PubMed  Google Scholar 

Harro J. Animals, anxiety, and anxiety disorders: How to measure anxiety in rodents and why. Behav Brain Res. 2018;352:81–93.

Article  PubMed  Google Scholar 

Hashimoto Y, Kuniishi H, Sakai K, Fukushima Y, Du X, Yamashiro K, Hori K, Imamura M, Hoshino M, Yamada M, Araki T, Sakagami H, Takeda S, Itaka K, Ichinohe N, Muntoni F, Sekiguchi M, Aoki Y. Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy. Prog Neurobiol. 2022;216: 102288.

Article  CAS  PubMed  Google Scholar 

Helleringer R, Le Verger D, Li X, Izabelle C, Chaussenot R, Belmaati-Cherkaoui M, Dammak R, Decottignies P, Daniel H, Galante M, Vaillend C. Cerebellar synapse properties and cerebellum-dependent motor and non-motor performance in Dp71-null mice. Dis Model Mech. 2018;11:dmm033258.

Article  PubMed  PubMed Central  Google Scholar 

Hendriksen JG, Vles JS. Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive–compulsive disorder. J Child Neurol. 2008;23:477–81.

Article  PubMed  Google Scholar 

Hendriksen JGM, Thangarajh M, Kan HE, Muntoni F, ENMC 249th workshop study group. 249th ENMC International Workshop: The role of brain dystrophin in mus