J Appl Biomed journal homepage: http://jab.zsf.jcu.cz DOI: 10.32725/jab.2018.002 Journal of Applied Biomedicine Review article Selected rare paediatric communication neurological disorders Blanka Klimova 1, Martin Valis 1, Jakub Hort 2, 3, Kamil Kuca 4, 5 * 1 University Hospital Hradec Kralove, Department of Neurology, Hradec Kralove, Czech Republic 2 Charles University in Prague, 2nd Faculty of Medicine and University Hospital Motol, Memory Disorders Clinic, Department of Neurology, Prague, Czech Republic 3 St. Anne’s University Hospital Brno, International Clinical Research Center, Brno, Czech Republic 4 University of Hradec Kralove, Faculty of Science, Department of Chemistry, Hradec Kralove, Czech Republic 5 University Hospital Hradec Kralove, Biomedical Research Centre, Hradec Kralove, Czech Republic Abstract The purpose of this review is to discuss rare neurological disorders with respect to communication difficulties typical of children. Firstly, communication disorders with special focus on rare communication neurological disorders are discussed. Secondly, on the basis of literature review, the authors explore clinical studies on the most typical rare children’s communication neurological disorders. Thirdly, on the basis of the findings from the clinical studies, they set a few recommendations for their medical therapies and management. The methodology was based on the literature review of research studies exploring the research issue. The findings show that the intervention strategies appear to have positive effects on the improvement of speech and language production among children suffering from Landau– Kleffner syndrome and childhood apraxia of speech. Nevertheless, randomized control trials are needed in order to accelerate and facilitate an early and relevant diagnosis and treatment management. In addition, a multidisciplinary approach seems to be the most appropriate for the accurate diagnosis and comprehensive treatment. Keywords: Childhood apraxia of speech; Communication; Landau–Kleffner syndrome; Language; Neurological disorders; Treatment each year there should be between 8–12 new orphan drugs Introduction (Kubackova et al., 2014). Rare neurological diseases represent a heterogeneous As the European Commission on Public Health (2017) states, group of disorders which predominantly affect the central and rare diseases (RD) are life-threatening or chronically debilitating peripheral nervous systems and muscle. They often result in diseases, which are of such low prevalence that special combined severe disability, possibly in death. Although they are rela- efforts are needed to address them. Thus, for instance, in Europe tively rare, their social and economic impact can be compared the disease is considered rare if one person out of 2000 people with other chronic neurological diseases such as stroke or Par- is affected, while in the USA it is one person out of 200 000 kinson’s disease (Dodel et al., 2004). The basic clinical units (Rare Diseases Act of 2002, 2002). Currently, 5400 rare dis- include Wilson’s disease, Huntington’s disease, amyotrophic eases listed in the Orphanet database have an endorsed rep- lateral sclerosis, rare dystonic syndromes, heredoataxia of chil- resentation in the foundation layer of the International Clas- dren and adult age, leukodystrophy, neurocutaneous diseases, sification of Diseases (ICD) 11 and rare neurological disorders and other rare diseases (Kubackova et al., 2014). with neurocognitive impairment as a major feature are one of The purpose of this mini-review is to discuss rare neuro- them (Aime et al., 2015). Neurological disorders form 50% of logical disorders with respect to communication difficulties RD (Federico, 2013). Similarly, as other RD, only a few of them typical of children. Firstly, communication disorders with have treatments, therefore sometimes RD are also called or- special focus on rare communication neurological disorders phan diseases. Generally, only 5% of all RD have medical thera- are discussed. Secondly, on the basis of literature review, the pies (Kubackova et al., 2014). 2002 products have orphan drug authors explore clinical studies on the most typical rare chil- designation with 352 drugs being provided with Food and dren’s communication neurological disorders. Thirdly, on the Drug Administration (FDA) approval (Maresova et al., 2016). basis of the findings from the clinical studies, they set a few Thanks to a specific regulation of orphan drugs, their num- recommendations for their medical therapies and manage- ber is gradually increasing year by year. It is estimated that ment. * Author for correspondence: Kamil Kuca, University Hospital Hradec Kralove, Biomedical Research Centre, Sokolska 581, 500 05 Hradec Kralove, Czech Republic; e-mail: [email protected] http://doi.org/10.32725/jab.2018.002 Submitted: 2018-03-20 • Accepted: 2018-09-24 • Prepublished online: 2018-11-23 J Appl Biomed 17/1: 29–33 • EISSN 1214-0287 • ISSN 1214-021X © 2018 The Authors. Published by University of South Bohemia in České Budějovice, Faculty of Health and Social Sciences. This is an open access article under the CC BY-NC-ND license. 30 Klimova et al. / J Appl Biomed communication is used) or hard of hearing (the auditory Materials and methods channel is still used for communication). • Central auditory processing disorders (CAPD) are insufficien- The methods included a literature review of research studies cies in the processing of information of audible signals, exploring rare communication neurological disorders with not attributed to impaired peripheral hearing sensitivity special focus on rare children’s communication neurological or intellectual impairment. This information processing in- disorders, their classification, medical therapies and manage- cludes perceptual, cognitive, and linguistic functions that, ment, and an analysis of their results. The search for the key with appropriate interaction, cause effective receptive words rare diseases, orphan diseases, rare neurological disorders, communication of auditorily presented stimuli. Specifical- and rare neurological diseases, was conducted PubMed, Scopus, ly, CAPD refers to the reduced ability of ongoing transmis- and Web of Knowledge in the period of 2000 to 2015. The se- sion, analysis, organization, transformation, elaboration, lection began in the year of 2000 because after this year re- storage, retrieval, and use of information contained in au- search studies on this research topic started to be published. dible signals. The authors of this mini-review also researched the case re- ports and descriptive studies. In addition, for the definition of It is the left hemisphere of the brain which is particularly communication disorders and their classification, review stud- connected with the speech and language functions. There are ies and web pages of the most important organizations in this two specific areas of the brain whose damage causes the speech field were searched. and language impairments. Those are the Broca’s area in the Altogether 140 studies were detected. Most of them were posterior frontal lobe and the Wernicke’s area in the tempo- found in PubMed – 70 research studies, which was then fol- ral lobe. Harm to Broca’s area causes difficulties with fluency, lowed by Scopus – 59 studies. After removing some of them for while harm to Wernicke’s area affects speech which is fluent, their duplicity, analysing their titles and abstracts, 34 studies however, it lacks content (Longe, 2011). remained for the full-text analysis and eventually seven stud- Apart from the common speech and language disorders ies were identified for the detailed analysis. Nevertheless, the such as dysarthria or aphasia (Klimova and Kuca, 2016a), remaining studies were then used in the manuscript in order which can be also part of the symptoms of rare neurological to compare and discuss the results. diseases such as Huntington’s disease, there are less common or even rare communication neurological disorders such as Communication disorders – their definition and dysprosody, Jacobsen syndrome, or spasmodic dysphonia, classification with special focus on rare communication which cannot be unfortunately cured. Dysprosody, or the so- called foreign accent syndrome (FAS), is a rare medical disor- neurological disorders der in which people affected by the brain injury lose the ability ASHA (1982) defines a communication disorder as an im- to speak in their native accent and acquire a foreign accent, pairment in the capability to receive, send, process, and un- derstand concepts or verbal, nonverbal and graphic symbol even if they have never travelled to that country. The key systems. This may be manifested in the process of hearing, lan- symptoms involve longer and distorted vowel sounds, differ- guage, and/or speech. A communication impairment can be of ent movement of tongue or jaw when speaking, using wrong different degree of severity, from mild to severe. Furthermore, words to describe something, inability to make a proper sen- it can be developmental or acquired. People may possess only tence, or behavioral changes corresponding to the nationality one or several communication disorders. A communication of the new accent (Marien and Verhoeven, 2007). Jacobsen disorder may result in a primary disability or it may be second- syndrome is a multiple congenital anomaly/mental retarda- ary to other disabilities. Altogether there are four main types tion (MCA/MR) contiguous gene syndrome caused by partial of communication