Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature

Hellebrekers, Danique M. J.; Lionarons, J.; Faber, Catharina G.; Klinkenberg, Sylvia; Vles, Johan S.H.; Hendriksen, Jos G.M.

doi:10.1093/jpepsy/jsz062

Cited by 20 publications

(18 citation statements)

References 87 publications

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“…On the other hand, peer problems might have been related to physical disability. Contrary to the literature (16,18), there was no significant difference concerning behavioral problems between the 2 groups. We determined higher scores of the prosocial subscale, which pointed to better social abilities in the patient group, which would be related to not having behavioral problems.…”

Section: Discussioncontrasting

confidence: 99%

“…Cognitive impairment at varying degrees can be found in DMD/BMD patients. A higher prevalence of autism spectrum disorder, anxiety, depression, and obsessive compulsive disorder has been reported in patients with DMD (16). Similarly, behavioral disorders, attention deficit, autism spectrum disorder, and social problems have a higher prevalence in BMD patients (16).…”

Section: Discussionmentioning

confidence: 96%

“…A higher prevalence of autism spectrum disorder, anxiety, depression, and obsessive compulsive disorder has been reported in patients with DMD (16). Similarly, behavioral disorders, attention deficit, autism spectrum disorder, and social problems have a higher prevalence in BMD patients (16). Cognitive impairment can be found in one-third of DMD/BMD patients (17).…”

Section: Discussionmentioning

confidence: 99%

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Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Köken¹,

Kucur²,

Taşkiran³

et al. 2021

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Introduction: Duchenne Muscular Dystrophy (DMD) and Becker Muscular dystrophy (BMD), are chronic and progressive and rare genetic disorders that cause systemic involvement such as progressive muscle deterioration, motor disability, cardiomyopathy, and respiratory problems, with an increased risk of cognitive decline and psychological problems They are a group of neuromuscular diseases in which psychological problems affect negatively on quality of life (Qol) not only patients but also caregivers. This study demonstrates the clinical features of patients with DMD/BMD and their caregivers and compares controls with respects to psychological and social aspects. Materials and Methods: A total of 20 patients (3 with BMD and 17 with DMD), aged between 8 and 18 years, and 20 age-matched healthy children were included in this descriptive and cross-sectional study. The patients were evaluated by the pediatric neurology, cardiology, and psychiatry departments at the study time. Their demographic and clinical features were recorded. The Wechsler Intelligence Scale for Children-Revised (WISC-R), Pediatric Quality of Life Inventory (PedsQL) and its parent form, and the Strengths and Difficulties Questionnaire (SDQ) were applied to all of the participants. Results: The QoL scores were lower in patients with moderate and severe DMD/ BMD and their caregivers. In patients with DMD and in both groups, emotional symptoms, peer problems and prosocial behavior scores were higher in the subsets of the SDQ. The PedsQL child-parent scores were lower in all of the subsets with statistical significance. Conclusions: DMD and BMD comprise a group of chronic diseases with multiple complications that are difficult to manage. A QoL equal or close to that of the healthy children should be targeted. Today, proposed or experimental treatments for this disease group are assessed based on their ability to enhance QoL. Inquiring into the QoL and counseling should become routine. KeywordsDuchenne musküler distrofi, becker musküler distrofi, sağlıkla ilişkili yaşam kalitesi Anah tar ke li me ler Duchenne muscular dystrophy, becker muscular dystrophy, health-related quality of life

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Köken¹,

Kucur²,

Taşkiran³

et al. 2021

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“…However, given these potential biases, it is reassuring that between-group differences in the primary outcomes were still identified. The emotional and behavioural screening instruments used are not diagnostic measures and may have limitations in DMD, 79 therefore caution should be taken in interpreting neuropsychiatric data.…”

Section: Discussionmentioning

confidence: 99%

Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency

Maresh

Papageorgiou

Ridout

et al. 2021

Preprint

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Duchenne muscular dystrophy (DMD) is characterised by loss of dystrophin in muscle. Patients affected by DMD also have variable degree of intellectual disability and neurobehavioural co-morbidities. In contrast to muscle, in which a single full-length isoform (Dp427) is produced, multiple dystrophin isoforms are produced in the brain, and their deficiency accounts for the variability of CNS manifestations, with increased risk of comorbidities in patients carrying mutations affecting the 3′ end of gene, disrupting the shorter Dp140 and Dp71 isoforms. The mdx mouse model of DMD lacks Dp427 in muscle and CNS and exhibits exaggerated startle responses to threat, linked to the deficiency of dystrophin in limbic structures such as the amygdala, which normalise with postnatal brain dystrophin-restoration therapies. A pathological startle response is not a recognised feature of DMD, and its characterisation has implications for improved clinical management and translational research. To investigate startle responses in DMD, we used a novel fear-conditioning task in an observational study of 56 males aged 7-12 years (31 DMD, mean age 9.7±1.8 years; 25 Controls, mean age 9.6±1.4 years). Trials of two neutral visual stimuli were presented to participants: one safe cue presented alone; one threat cue paired with an aversive noise to enable conditioning of physiological startle responses (skin conductance response, SCR; heart rate, HR). Retention of conditioned physiological responses was subsequently tested with presentation of both cues without the aversive noise in an extinction phase. Primary outcomes were the magnitude of the initial unconditioned SCR and HR change responses to the aversive threat and acquisition and retention of conditioned responses after conditioning. Secondary outcomes were neuropsychological measures and genotype associations. The initial (unconditioned) mean SCR to threat was greater in DMD than Controls (Mean difference 3.0 μS (95% CI 1.0, 5.1), P=.004), associated with a significant threat-induced bradycardia only in the DMD group (mean difference -5.6 bpm (95% CI 0.51, 16.9); P=.04). DMD participants found the task more aversive than Controls, consequently early termination during the extinction phase occurred in 26% of the DMD group (vs. 0% Controls; P=.007). This study provides the first evidence that boys with DMD show increased unconditioned startle responses to threat, similar to the mdx mouse phenotype that also responds to brain dystrophin restoration. Our study provides new insights into the neurobiology underlying the complex neuropsychiatric co-morbidities in DMD and defines an objective measure of this CNS phenotype, which will be valuable for future CNS-targeted dystrophin-restoration studies.

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“…Dr. Hendriksen presented the results of a recently published review about the state of the art of assessment tools available to measure behavior [45] . In the 51 studies reviewed, a total of 61 different instruments were used with none of them being specifically developed for DMD.…”

Section: Overview Of Learning and Behavior Issues In Dmd And Bmd Jos mentioning

confidence: 99%

249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 2019

Hendriksen

Thangarajh

Kan

et al. 2020

Neuromuscular Disorders

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Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature

Cited by 20 publications

References 87 publications

Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency

249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 2019

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