Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder: A case report using eye tracking assessment.

INTRODUCTION: Despite the increased prevalence of comorbid attention deficit hyperactivity disorder (ADHD) in children with myotonic dystrophy type 1, the effects of methylphenidate treatment on associated cognitive deficits in this population is not yet investigated. CASE: We describe a case study of an eleven-year-old male patient with myotonic dystrophy type 1 and comorbid ADHD that was treated with methylphenidate in a twice daily regime (0.60 mg/kg/day). Positive effects on learning and cognition were reported by the parents and teachers. No negative side effects were reported. Sequential neuropsychological assessments before and 45 minutes after methylphenidate intake were conducted to quantify the cognitive effects of methylphenidate treatment. Significant improvements in regulation of attention were behaviorally observed and were quantified using eye tracking technology. CONCLUSION: We conclude that methylphenidate may be an effective treatment for ADHD-related cognitive deficits and learning difficulties in children with myotonic dystrophy type 1 which merits further research.

Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation.

INTRODUCTION/AIMS: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore the prevalence of a broad variety of symptoms in the various stages of DMD (with and without steroid use); (2) to explore the prevalence of common secondary diagnoses; and (3) to evaluate the social participation level of patients with DMD older than 16 y of age; and to explore correlations between social participation and symptoms. METHODS: A cross-sectional self-report questionnaire, including questions on functional level and health status, as well as a standardized participation scale was distributed among Dutch patients with DMD. RESULTS: Eighty-four male patients with a mean age of 22.0 (SD = 10.0) y were enrolled. The most prevalent and limiting symptoms were difficulty coughing (58%), coldness of hands (57%), contractures (51%), stiffness (49%), fatigue (40%), myalgia (38%), and low speech volume (33%). Prevalent secondary diagnoses included cardiac disease (14%), neurobehavioral diagnosis (13%), low blood pressure (13%), and arthrosis (5%). Social participation correlated negatively with coldness of hands (r = - .29; P < .03), decreased intelligibility (r = - .40; P < .003), and chewing problems (r = - .33; P < .02). DISCUSSION: The prevalence of a broad spectrum of symptoms and secondary diagnoses is high in patients with DMD, and some of these symptoms are correlated with social participation. Growing awareness of new symptoms and secondary diagnoses among patients, caregivers, and professionals can enhance their recognition, possibly facilitating prevention and early treatment.

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

OBJECTIVE: This systematic review aims to provide an overview of instruments used to assess behavioral and psychosocial functioning of patients with Duchenne and Becker muscular dystrophy, as well as to review the psychometric properties and applicability of these instruments. METHODS: Five databases (Embase, Psyc.info, ERIC, Pubmed/Medline, and Cochrane) were searched from inception to June, 2018. Potential articles were rated by two independent reviewers. A predefined PROSPERO form (CRD42017074518) was used to extract data from included articles. RESULTS: Sixty-one instruments were used in 54 studies. The Child Behavior Checklist is commonly used, but it lacks disease specific psychometric information. Sixteen instruments that contained disease specific psychometric information were included for final evaluation. The results displayed three instruments that are potentially valid for screening of psychosocial problems: The Psychosocial Adjustment and Role Skills Scale 3rd edition, the Pediatric Quality of Life Inventory Generic module, and the Life Satisfaction Index for Adolescents with Duchenne muscular dystrophy. Appropriate instruments for screening of behavioral problems may be: the Strengths and Difficulties Questionnaire, the Generalized Anxiety Disorder-7 item questionnaire, and the Patient Health Questionnaire-9 item questionnaire. CONCLUSIONS: Further research on psychometric properties of screening instruments is crucial to ascertain a gold standard for clinical and research purposes. Meanwhile, for definite diagnostics purposes we recommend a multimethod, multisource, multisetting assessment in this high-risk population.

Clinical evaluation of language fundamentals in Rolandic epilepsy, an assessment with CELF-4.

BACKGROUND: In clinical practice, Rolandic epilepsy is in many cases associated with developmental language impairment. However, from the literature it is unclear exactly which domains are affected; A wide variety of investigations are reported that each provide a different representation of language performance in these patients. AIMS: The aim of this study is to compare performance on the language domains between children with Rolandic epilepsy and healthy controls. METHODS: Prospective study of children with Rolandic epilepsy compared to healthy controls. 25 children (mean age 136.6 months, SD 23.0) with Rolandic epilepsy and 25 age-matched healthy controls were tested on their language function using the CELF-4 (Clinical evaluation of Language Fundamentals, Dutch edition). The healthy control were not matched regard to other important factors, particularly educational attainment and co-morbidity. Expressive language, receptive language, language content, language structure and language working memory were tested. RESULTS: In children with Rolandic epilepsy, the core language score was significant lower compared with healthy controls. They scored specifically lower on the receptive language index and language content index (both p = 0.002). A trend towards decreased expressive language index was observed (p = 0.054). Language structure and language working memory were in the normal range. CONCLUSION: Language was found to be impaired in children with typical Rolandic epilepsy. Especially semantic language processing including receptive language and language content was significantly impaired. The common denominator of these functions is semantic language processing.

Research into the (Cost-) effectiveness of the ketogenic diet among children and adolescents with intractable epilepsy: design of a randomized controlled trial.

BACKGROUND: Epilepsy is a neurological disorder, characterized by recurrent unprovoked seizures which have a high impact on the individual as well as on society as a whole. In addition to the economic burden, epilepsy imposes a substantial burden on the patients and their surroundings. Patients with uncontrolled epilepsy depend heavily on informal care and on health care professionals. About 30% of patients suffer from drug-resistant epilepsy. The ketogenic diet can be a treatment of last resort, especially for children. The beneficial effect of the ketogenic diet has been proven, but information is lacking about its cost-effectiveness. In the current study we will evaluate the (cost-) effectiveness of the ketogenic diet in children and adolescents with intractable epilepsy. METHODS/DESIGN: In a RCT we will compare the ketogenic diet with usual care. Embedded in this RCT will be a trial-based and model-based economic evaluation, looking from a societal perspective at the cost-effectiveness and cost-utility of the ketogenic diet versus usual care. Fifty children and adolescents (aged 1-18) with intractable epilepsy will be screened for eligibility before randomization into the intervention or the usual care group. The primary outcome measure is the proportion of children with a 50% or more reduction in seizure frequency. Secondary outcomes include seizure severity, side effects/complaints, neurocognitive, socio-emotional functioning, and quality of life. Costs and productivity losses will be assessed continuously by a prospective diary and a retrospective questionnaire. Measurements will take place during consults at baseline, at 6 weeks and at 4 months after the baseline period, and 3, 6, 9 and 12 months follow-up after the 4 months consult. DISCUSSION: The proposed research project will be the first study to provide data about the cost-effectiveness of the ketogenic diet for children and adolescents with intractable epilepsy, in comparison with usual care. It is anticipated that positive results in (cost-) effectiveness of the proposed intervention will contribute to the improvement of treatment for epilepsy in children and adolescents and will lead to a smaller burden to society.

Subtypes of learning disabilities: neuropsychological and behavioural functioning of 495 children referred for multidisciplinary assessment.

Aim of the present study was two fold: (1) to evaluate the course of referring and diagnosing Learning Disabilities (LD) and the contribution of multidisciplinary assessment and (2) to describe characteristics of three LD subtypes: Attention with or without Motor function Disabilities (AMD), Verbal Learning Disabilities (VLD) and Non-Verbal Learning Disabilities (NVLD). Diagnostics, behavioural and neuropsychological data from 495 children aged 6-17 years were described. First, AMD and VLD was the most frequent LD. Multidisciplinary assessment could contribute to the diagnostic process of LD, especially in diagnosing uncommon LD and comorbidities. Secondly, behavioural ratings, information processing, attention regularity and visual-motor integration proved to be most sensitive in discriminating between the three LD subtypes. However, diagnosing NVLD requires additional developmental information. Multiple discriminant function analysis correctly classified 61.7% of a selection of the present sample into LD subtypes as diagnosed by the multidisciplinary team. It is believed that the three subtypes are clinically relevant and suggestions are made to test the present classification functions in an independent sample, preferably diagnosed using a structured diagnostic interview.