Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy.
Duchenne muscular dystrophy
behavioral disorders
cognitive impairment
emotional disorders
neurodevelopmental disorders
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
24
01
2019
revised:
26
12
2019
accepted:
31
12
2019
pubmed:
8
1
2020
medline:
15
4
2020
entrez:
8
1
2020
Statut:
ppublish
Résumé
We studied neurodevelopmental and behavioral/emotional symptoms in patients with Duchenne muscular dystrophy (DMD). Retrospective case series of neurodevelopmental and behavioral/emotional symptoms obtained through review of systems of 700 DMD patients in relation to dystrophin gene mutations. The most common symptoms encountered were emotional/behavioral dysregulation (38.7%), inattention/hyperactive features (31.4%), obsessive and compulsive features (25.0%), and language/speech delays (24.4%). Most patients (72.7%) had at least one symptom. Patients with mutations near the 3' end of the dystrophin gene were at higher risk for developing inattention/hyperactive features, language/speech delays, and global intellectual delays. Those with mutations between exon 31 and 79 had higher risk of clustering of symptoms when compared with those upstream of exon 30. Neurodevelopmental, emotional, and behavioral symptoms are common comorbidities in DMD. There is higher prevalence of inattention/hyperactive features, language/speech delays, and global intellectual delays in genotypes affecting the 3' end of the dystrophin gene.
Substances chimiques
Dystrophin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
466-474Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2(12):731-740.
Pellegrini C, Zulian A, Gualandi F, et al. Melanocytes-a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol. 2013;228(6):1323-1331.
Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet. 1998;80(1):32-41.
Daoud F, Angeard N, Demerre B, et al. 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(20):3779-3794.
Morris GE, Simmons C, Man NT. Apo-dystrophins (DP140 and DP71) and dystrophin-splicing isoforms in developing brain. Biochem Biophys Res Commun. 1995;215(1):361-367.
Duchenne G-B. Recherches sur Ie paralysie musculaire pseudohypertrophique ou paralysie myosclerosique. Arch Gen Med. 6 ser 1868; 11 1868;179.
Huard J, Tremblay JP. Localization of dystrophin in the Purkinje cells of normal mice. Neurosci Lett. 1992;137(1):105-108.
Lidov HG, Byers TJ, Watkins SC, Kunkel LM. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 1990;348(6303):725-728.
Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain. 2002;125(1):4-13.
Felisari G, Boneschi FM, Bardoni A, et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology. 2000;55(4):559-564.
Hinton VJ, Cyrulnik SE, Fee RJ, et al. Association of autistic spectrum disorders with dystrophinopathies. Pediatr Neurol. 2009;41(5):339-346.
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(5):477-481.
Komoto J, Usui S, Otsuki S, Terao A. Infantile autism and Duchenne muscular dystrophy. J Autism Dev Disord. 1984;14(2):191-195.
Wu JY, Kuban KCK, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol. 2005;20(10):790-795.
Pane M, Lombardo ME, Alfieri P, et al. Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr. 2012;161(4):705-709.e701.
Hinton VJ, Nereo NE, Fee RJ, Cyrulnik SE. Social behavior problems in boys with Duchenne muscular dystrophy. J Dev Behav Pediatr. 2006;27(6):470-476.
Cohen HJ, Molnar GE, Taft LT. The genetic relationship of progressive muscular dystrophy (Duchenne type) and mental retardation. Dev Med Child Neurol. 1968;10(6):754-765.
Prosser EJ, Murphy EG, Thompson MW. Intelligence and the gene for Duchenne muscular dystrophy. Arch Dis Child. 1969;44(234):221-230.
Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol. 2001;43(7):497-501.
Hinton VJ, De Vivo DC, Nereo NE, Goldstein E, Stern Y. Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of Duchenne muscular dystrophy. J Int Neuropsychol Soc. 2001;7(1):45-54.
Hinton VJ, De Vivo DC, Fee RJ, Goldstein E, Stern Y. Investigation of poor academic achievement in children with Duchenne muscular dystrophy. Learn Disabil Res Pract. 2004;19(3):146-154.
Taylor PJ, Betts GA, Maroulis S, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One. 2010;5(1):e8803.
Thangarajh M, Spurney CF, Gordish-Dressman H, et al. Neurodevelopmental needs in young boys with Duchenne muscular dystrophy (DMD): observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS). PLoS Curr. 2018;10:pii:ecurrents.md.4cdeb6970e54034db54032bc54033dfa54054b54034d54987.
Banihani R, Smile S, Yoon G, et al. Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy. J Child Neurol. 2015;30(11):1472-1482.
Lee AJ, Buckingham ET, Kauer AJ, Mathews KD. Descriptive phenotype of obsessive compulsive symptoms in males with Duchenne muscular dystrophy. J Child Neurol. 2018;33(9):572-579.
Ricotti V, Mandy WP, Scoto M, et al. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol. 2016;58(1):77-84.
Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. Dev Med Child Neurol. 1981;23(6):577-590.
Fitzpatrick C, Barry C, Garvey C. Psychiatric disorder among boys with Duchenne muscular dystrophy. Dev Med Child Neurol. 1986;28(5):589-595.
Hendriksen JG, Poysky JT, Schrans DG, Schouten EG, Aldenkamp AP, Vles JS. Psychosocial adjustment in males with Duchenne muscular dystrophy: psychometric properties and clinical utility of a parent-report questionnaire. J Pediatr Psychol. 2009;34(1):69-78.
Fee RJ, Hinton VJ. Resilience in children diagnosed with a chronic neuromuscular disorder. J Dev Behav Pediatr. 2011;32(9):644-650.
Robertson MM. Tourette syndrome, associated conditions and the complexities of treatment. Brain. 2000;123(3):425-462.
Freeman RD. Tic disorders and ADHD: answers from a world-wide clinical dataset on Tourette syndrome. Eur Child Adolesc Psychiatry. 2007;16(1):15-23.
Rothenberger A, Roessner V, Banaschewski T, Leckman JF. Co-existence of tic disorders and attention-deficit/hyperactivity disorder-recent advances in understanding and treatment. Eur Child Adolesc Psychiatry. 2007;16:1):1-1):4.
Schlander M, Schwarz O, Rothenberger A, Roessner V. Tic disorders: administrative prevalence and co-occurrence with attention-deficit/hyperactivity disorder in a German community sample. Eur Psychiatry. 2011;26(6):370-374.
Roessner V, Becker A, Banaschewski T, Rothenberger A. Tic disorders and obsessive compulsive disorder: where is the link? In: Fleischhacker WW, Brooks DJ, eds. Neurodevelopmental Disorders. Vienna: Springer Vienna; 2005:69-99.
Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Series B Stat Methodol. 1995;57(1):289-300.
Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455.
Altarac M, Saroha E. Lifetime prevalence of learning disability among US children. Pediatrics. 2007;119(Suppl 1):S77-S83.
Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay. Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology. 2003;60(3):367-380.
Bertrand J, Mars A, Boyle C, Bove F, Yeargin-Allsopp M, Decoufle P. Prevalence of autism in a United States population: the Brick Township, New Jersey, investigation. Pediatrics. 2001;108(5):1155-1161.
Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005;162(6):1133-1141.
Newschaffer CJ, Croen LA, Daniels J, et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health. 2007;28(1):235-258.
Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children. JAMA. 2001;285(24):3093-3099.
Kessler RC, Avenevoli S, Costello EJ, et al. Prevalence, persistence, and sociodemographic correlates of DSM-IV disorders in the National Comorbidity Survey Replication Adolescent Supplement. Arch Gen Psychiatry. 2012;69(4):372-380.
Zohar AH. The epidemiology of obsessive-compulsive disorder in children and adolescents. Child Adolesc Psychiatr Clin N Am. 1999;8:445-460.
Leonard HL, Ale CM, Freeman JB, Garcia AM, Ng JS. Obsessive-compulsive disorder. Child Adolesc Psychiatr Clin N Am. 2005;14(4):727-743.
Dorman C, Hurley AD, Avignon JD. Language and learning disorders of older boys with Duchenne muscular dystrophy. Dev Med Child Neurol. 1988;30(3):316-327.
Karagan NJ, Zellweger HU. Early verbal disability in children with Duchenne muscular dystrophy. Dev Med Child Neurol. 1978;20(4):435-441.
Law J, Boyle J, Harris F, Harkness A, Nye C. Prevalence and natural history of primary speech and language delay: findings from a systematic review of the literature. Int J Lang Commun Disord. 2000;35:165-188.
Willcutt EG. The prevalence of DSM-IV attention-deficit/hyperactivity disorder: a meta-analytic review. Neurotherapeutics. 2012;9(3):490-499.
Scahill L, Bitsko RH, Visser SN, Blumberg SJ. Prevalence of diagnosed tourette syndrome in persons aged 6-17 years - United States, 2007. MMWR Morb Mortal Wkly Rep. 2009;58(21):581-585.
Knight T, Steeves T, Day L, Lowerison M, Jette N, Pringsheim T. Prevalence of tic disorders: a systematic review and meta-analysis. Pediatr Neurol. 2012;47(2):77-90.
Bitsko RH, Holbrook JR, Visser SN, et al. A national profile of Tourette syndrome, 2011-2012. J Dev Behav Pediatr. 2014;35(5):317-322.
Rapaport D, Passos-Bueno MR, Takata RI, et al. A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation. Neuromuscul Disord. 1992;2(2):117-120.
Bushby KM, Appleton R, Anderson LV, Welch JL, Kelly P, Gardner-Medwin D. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol. 2008;37(3):260-269.
Brünig I, Suter A, Knuesel I, Lüscher B, Fritschy J-M. GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABAA receptors and gephyrin. J Neurosci. 2002;22(12):4805-4813.
Sekiguchi M, Zushida K, Yoshida M, et al. A deficit of brain dystrophin impairs specific amygdala GABAergic transmission and enhances defensive behaviour in mice. Brain. 2009;132(1):124-135.
Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Neurology. 2018;91(13):e1215-e1219.
Waugh TA, Horstick E, Hur J, et al. Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Hum Mol Genet. 2014;23(17):4651-4662.
Hendriksen JG, Klinkenberg S, Collin P, Wong B, Niks EH, Vles JS. Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: a case report. Neuromuscul Disord. 2016;26(10):659-661.
USFDA. Real-World Evidence. Vol 2019. Hampton, VA: United States Food & Drug Administration; 2019.
Sherman RE, Anderson SA, Dal Pan GJ, et al. Real-world evidence - what is it and what can it tell us? N Engl J Med. 2016;375(23):2293-2297.