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PP12.14 – 2319: Reliability of phenotypic early onset ataxia recognition
EUROPEAN JOURNAL O F PAEDIATRIC NEUROLOGY
PP12.13 - 2362 The influence of motor and vocal tic severity on children’s quality of life M. Kyriazi, E. Vargiami, E. Kalyva, D.I. Zafeiriou. 1st Department of Pediatrics, Developmental Center “A. Fokas”, Aristotle University of Thessaloniki, Thessaloniki, Greece Objective: To assess the influence of motor and vocal tic severity on children’s quality of life (QOL). Methods: Forty six children were assessed (61% boys, 39% girls), aged 3.5–15.5 years old. Twenty five children (54%) presented with both motor and vocal tics, eighteen children (39%) with only motor tics and 3 children (7%) with Tourette’s disorder. The motor and vocal tic severity was assessed with Yale Global Tic Severity Scale (YGTSS), while the quality of children’s life was assessed with KIDSCREEN-52 QOL questionnaire. By using linear regression we examined if the factors: age, sex, motor tic severity (of YGTSS), vocal tic severity, total tic severity score, impairment, total Yale Global Tic Severity Scale Score, affect the QOL of children with tics. Results: The only dimensions of children’s QOL that were affected were autonomy and financial resources. Furthermore, on dimensions: physical well-being, moods and emotions and autonomy the older the child was the worse was his/her QOL. In relation to the kind of tic, the severity of vocal tics correlated significant (p<0.05) negatively with children’s autonomy and social support. On the contrary, the severity of motor tics correlated significant (p<0.05) negatively with children’s QOL regarding parent relations and home life. The quality of girls’ life in school environment was better than boys’ and regarding financial resources boys had better quality of life than girls. Dimensions like: psychologic well-being, self-perception and social acceptance (bullying) were not statistical different. Conclusion: There is an evident lack of studies that examine QOL in children with tics. The severity of motor and vocal tics affect negatively children’s QOL on multiple dimensions. Children’s age is not only a correlative but also a predictive factor: predicting a worse QOL in older children, one could select older children in need for more aggressive psychological intervention.
PP12.14 - 2319 Reliability of phenotypic early onset ataxia recognition T.F. Lawerman, R. Brandsma, J.T. van Geffen, R.J. Lunsing, H. Burger, M.A.J. Tijssen, J.J. de Vries, T.J. Koning, D.A. Sival. Department of (Pediatric) Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Objective: In absence of a “golden detection standard”, identification of early onset ataxia (EOA) relies on phenotypic ataxia recognition. In children, this process is complex for several reasons: 1. physiologically immature motor behavior may “overlap” with signs of initiating ataxia; 2. EOA often involves “mixed” phenotypes (i.e. concurrent with other movement disorders) and 3. movement disorders are phenotyped by specialists of diverse backgrounds. Insight in phenotypic EOA recognition may help to improve the diagnostic yield of innovative genetic techniques and may contribute to the inclusion of high quality patient data in international databases. This study aimed to investigate the inter-observer agreement on phenotypic EOA recognition and to explore whether SARA (Scale for Assessment and Rating of Ataxia) can provide a discriminative marker for EOA recognition. Methods: Seven movement disorder specialists independently phenotyped motor behavior of 40 patients (mean age 15 years, range 5–34 years) in whom ataxic features were described (medical records; University Medical Center Groningen; 1998–2012). We determined Fleiss Kappa (FK) and Cohen’s Kappa’s according to observer-subgroups (pediatric-neurology, adult-neurology, genetics, and trainees). We compared %SARAsubscores (subscore/total score x 100%) between “indisputable”
19s (2015) S1 – S152
S81
(primary ataxia recognition by at least six observers) and “mixed” (ataxia recognition, unfulfilling “indisputable” criteria) EOA phenotypes. Results: Phenotypic EOA recognition was statistically significant, but of moderate strength (FK=0.414). Pediatric neurologists revealed the highest intergroup agreement (with all observer-subgroups; p<0.05). During mild disease progression, %SARA-gait-subscores appeared discriminative between “indisputable” and “mixed” EOA phenotypes. In patients with %SARAgait-subscores >30%, primary ataxia recognition was more frequently present than in patients with %SARA-gait-subscores <30% (p=0.001). Conclusion: Among movement disorder professionals from different disciplines, inter-observer agreement on phenotypic EOA recognition is statistically significant, but of moderate strength. SARA gait-subscores can provide a supportive discriminative marker between EOA phenotypes. Phenotypic insight may hopefully contribute to the inclusion of uniform, high quality data in international EOA databases.
PP12.15 - 2538 Therapeutic interventions for movement disorders in children with inborn errors of metabolism: What is the evidence? A. Kuiper, H. Eggink, M.A.J. Tijssen, T.J. de Koning. Department of Neurology, University of Groningen, University Medical Center Groningen, The Netherlands Objective: Movement disorders (MD) are common symptoms in patients with inborn errors of metabolism (IEM). Based on a recent study, these symptoms seem to have serious impact on quality of life and daily functioning. Therefore knowledge about the optimal treatment is crucial. However, up till now a clear overview of the evidence for the efficacy and safety of therapeutic interventions for MD in IEM is lacking, in particular for the pediatric population. Methods: A systematic literature search in Pubmed and Embase was performed to identify all articles reporting the effect of therapeutic interventions for MD in children with IEM. Results: 288 papers were included, describing 63 different IEM. The most common observed MD were dystonia, ataxia and myoclonus. The effect on MD of disease specific treatments, primary aimed at the underlying condition (e.g. dietary measures), was mostly restricted to prevention with only mixed success. In the case of already existing MD the role of disease specific treatment is minimal. An exception is formed by neurotransmitter disorders, in this group resolving the biochemical defect usually leads to a dramatic improvement of the MD. When disease specific treatment lacks or fails, symptomatic therapies can be applied. In particular for dystonia, without excluding other MD, there are several effective therapeutic options available, of which trihexyfenidyl (Artane) and botulin toxin injections are amongst the most successful. In severe cases neurosurgical intervention in the form of deep brain stimulation is an option, although experiences in patients with IEM are still limited. Conclusion: This is the first study reviewing the evidence for MD therapies in children with IEM. Most evidence consists of relatively small case reports. However, putting all data together gives valuable insight in which treatment options might work, and which not. Our overview provides a more rational basis for treatment choices in clinical practice.
PP12.16 - 2973 Congenital cerebellar ataxias – Clinical, radiological and genetic considerations V. Brankovic, A. Zekavica, J. Popara, V. Milic Rasic. Clinic for Child Neurology and Psychyatry, Belgrde, Serbia Objective: Congenital ataxias, according to Harding’s classification, represent a subgroup of early onset ataxias. The aim of this study was to evaluate initial clinical presentations, course of
PP12.13 - 2362 The influence of motor and vocal tic severity on children’s quality of life M. Kyriazi, E. Vargiami, E. Kalyva, D.I. Zafeiriou. 1st Department of Pediatrics, Developmental Center “A. Fokas”, Aristotle University of Thessaloniki, Thessaloniki, Greece Objective: To assess the influence of motor and vocal tic severity on children’s quality of life (QOL). Methods: Forty six children were assessed (61% boys, 39% girls), aged 3.5–15.5 years old. Twenty five children (54%) presented with both motor and vocal tics, eighteen children (39%) with only motor tics and 3 children (7%) with Tourette’s disorder. The motor and vocal tic severity was assessed with Yale Global Tic Severity Scale (YGTSS), while the quality of children’s life was assessed with KIDSCREEN-52 QOL questionnaire. By using linear regression we examined if the factors: age, sex, motor tic severity (of YGTSS), vocal tic severity, total tic severity score, impairment, total Yale Global Tic Severity Scale Score, affect the QOL of children with tics. Results: The only dimensions of children’s QOL that were affected were autonomy and financial resources. Furthermore, on dimensions: physical well-being, moods and emotions and autonomy the older the child was the worse was his/her QOL. In relation to the kind of tic, the severity of vocal tics correlated significant (p<0.05) negatively with children’s autonomy and social support. On the contrary, the severity of motor tics correlated significant (p<0.05) negatively with children’s QOL regarding parent relations and home life. The quality of girls’ life in school environment was better than boys’ and regarding financial resources boys had better quality of life than girls. Dimensions like: psychologic well-being, self-perception and social acceptance (bullying) were not statistical different. Conclusion: There is an evident lack of studies that examine QOL in children with tics. The severity of motor and vocal tics affect negatively children’s QOL on multiple dimensions. Children’s age is not only a correlative but also a predictive factor: predicting a worse QOL in older children, one could select older children in need for more aggressive psychological intervention.
PP12.14 - 2319 Reliability of phenotypic early onset ataxia recognition T.F. Lawerman, R. Brandsma, J.T. van Geffen, R.J. Lunsing, H. Burger, M.A.J. Tijssen, J.J. de Vries, T.J. Koning, D.A. Sival. Department of (Pediatric) Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Objective: In absence of a “golden detection standard”, identification of early onset ataxia (EOA) relies on phenotypic ataxia recognition. In children, this process is complex for several reasons: 1. physiologically immature motor behavior may “overlap” with signs of initiating ataxia; 2. EOA often involves “mixed” phenotypes (i.e. concurrent with other movement disorders) and 3. movement disorders are phenotyped by specialists of diverse backgrounds. Insight in phenotypic EOA recognition may help to improve the diagnostic yield of innovative genetic techniques and may contribute to the inclusion of high quality patient data in international databases. This study aimed to investigate the inter-observer agreement on phenotypic EOA recognition and to explore whether SARA (Scale for Assessment and Rating of Ataxia) can provide a discriminative marker for EOA recognition. Methods: Seven movement disorder specialists independently phenotyped motor behavior of 40 patients (mean age 15 years, range 5–34 years) in whom ataxic features were described (medical records; University Medical Center Groningen; 1998–2012). We determined Fleiss Kappa (FK) and Cohen’s Kappa’s according to observer-subgroups (pediatric-neurology, adult-neurology, genetics, and trainees). We compared %SARAsubscores (subscore/total score x 100%) between “indisputable”
19s (2015) S1 – S152
S81
(primary ataxia recognition by at least six observers) and “mixed” (ataxia recognition, unfulfilling “indisputable” criteria) EOA phenotypes. Results: Phenotypic EOA recognition was statistically significant, but of moderate strength (FK=0.414). Pediatric neurologists revealed the highest intergroup agreement (with all observer-subgroups; p<0.05). During mild disease progression, %SARA-gait-subscores appeared discriminative between “indisputable” and “mixed” EOA phenotypes. In patients with %SARAgait-subscores >30%, primary ataxia recognition was more frequently present than in patients with %SARA-gait-subscores <30% (p=0.001). Conclusion: Among movement disorder professionals from different disciplines, inter-observer agreement on phenotypic EOA recognition is statistically significant, but of moderate strength. SARA gait-subscores can provide a supportive discriminative marker between EOA phenotypes. Phenotypic insight may hopefully contribute to the inclusion of uniform, high quality data in international EOA databases.
PP12.15 - 2538 Therapeutic interventions for movement disorders in children with inborn errors of metabolism: What is the evidence? A. Kuiper, H. Eggink, M.A.J. Tijssen, T.J. de Koning. Department of Neurology, University of Groningen, University Medical Center Groningen, The Netherlands Objective: Movement disorders (MD) are common symptoms in patients with inborn errors of metabolism (IEM). Based on a recent study, these symptoms seem to have serious impact on quality of life and daily functioning. Therefore knowledge about the optimal treatment is crucial. However, up till now a clear overview of the evidence for the efficacy and safety of therapeutic interventions for MD in IEM is lacking, in particular for the pediatric population. Methods: A systematic literature search in Pubmed and Embase was performed to identify all articles reporting the effect of therapeutic interventions for MD in children with IEM. Results: 288 papers were included, describing 63 different IEM. The most common observed MD were dystonia, ataxia and myoclonus. The effect on MD of disease specific treatments, primary aimed at the underlying condition (e.g. dietary measures), was mostly restricted to prevention with only mixed success. In the case of already existing MD the role of disease specific treatment is minimal. An exception is formed by neurotransmitter disorders, in this group resolving the biochemical defect usually leads to a dramatic improvement of the MD. When disease specific treatment lacks or fails, symptomatic therapies can be applied. In particular for dystonia, without excluding other MD, there are several effective therapeutic options available, of which trihexyfenidyl (Artane) and botulin toxin injections are amongst the most successful. In severe cases neurosurgical intervention in the form of deep brain stimulation is an option, although experiences in patients with IEM are still limited. Conclusion: This is the first study reviewing the evidence for MD therapies in children with IEM. Most evidence consists of relatively small case reports. However, putting all data together gives valuable insight in which treatment options might work, and which not. Our overview provides a more rational basis for treatment choices in clinical practice.
PP12.16 - 2973 Congenital cerebellar ataxias – Clinical, radiological and genetic considerations V. Brankovic, A. Zekavica, J. Popara, V. Milic Rasic. Clinic for Child Neurology and Psychyatry, Belgrde, Serbia Objective: Congenital ataxias, according to Harding’s classification, represent a subgroup of early onset ataxias. The aim of this study was to evaluate initial clinical presentations, course of